                         SEQUENCE LISTING

<110>  Storry, Jill R
       Jud, Magnus
       Nilsson, Bjrn
       Olsson, Martin L
 
<120>  Methods and tools for Vel blood grouping

<130>  P2985PC00

<150>  SE 1251099-6
<151>  2012-10-01

<160>  36    

<170>  PatentIn version 3.5

<210>  1
<211>  3187
<212>  DNA
<213>  Homo sapiens

<400>  1
cagagacgcg gggacacagg tgaggcgcgc ggggtccggg ctgcggcttc ccggtgcggc       60

cgcagtgggc aggtgcgact gtgcgcggcc tcgctggctg agaactggcg ggggtggggg      120

cgtgccctgg actgaccccc accggcctaa cccgcggtgc ggggccaggg ccggaactgc      180

ccgcccggct ccttgcccgg ctccttgtgg ctgctgggga cccccgacac cagccacttt      240

cccttcccgg cccttagcaa gatcggcttc tccggtcacc tttatttttt taggctcgag      300

gcgtctgccg cacctcagcc cacgacctgc cccgctggga ggtgcgggcc gctggccagg      360

ccctgaccgc aacctggccc agaggcccca gccctcaggc aaggttctcc gggtaagtgt      420

ggggccctga ggcgctgtgg ggtgaagagg tctatggagg ggcgcctgtg tacctagggc      480

cttcctgcac tcacaagccc ccaggaggtg ccaggatccg ggagcctccc agggcctgga      540

ggggagtccc tgatgggttc ctgccgccac acctgtgacc atcacatgag tgtggagaga      600

cgtttactga gcaagtgagg gaggccagcc tcaagggccg gctctggtgg ctgtgcaccg      660

gggtgacttg ggaacaacgt gttctacgtc agcaagacag gaacccatga tcccagagtt      720

gaacacactg ggcttgaccc ctcccaccgg gaggcccatg gtgggctgct gctgtggact      780

tggagcctca gcactcccga gactaatgct gcgtggatgt cgggttgcaa ggcggctgct      840

gcagctccag cagctccagc catcacgtcg agtctggaag aaggaggtgg ctgctgctgc      900

tttcacagaa gcaaactctc ccatcccctg ctgcaccctg gctcctggac cccagctggg      960

tgacttggga aagcaggggt ggtggtatta agcttgtctt acccgggtca tggctgttac     1020

ctggggctgg cacattgctg ctgggaccag aatgggattc tgcacaccag gcaagagggc     1080

gtgaacctcg ggtaggcagc tgaccgctcc acatgctccg ggaaaacagc acccatactc     1140

cagtagaggc tgggcctctc cgggcctgag tgccaggctg cactgagcca gggctcccac     1200

cgaaggcaca ctttatggct ttgagacagc tccttctgcc tctctgggct ttgggggaag     1260

gcagacatgg aagtgccggg agtctcagaa ctgcctgggg cctgagtttc tgagctggct     1320

tcttgcaggg gagtggctgc tgtgccttta ggcctctgtg ccgatgacct gggaggaagg     1380

tcagccttcc ccgctggagg gggcccagca aagcctcagc tcctagaagt gaggggcctg     1440

ccattgcctg cccgaggacc ccactcctgg gggccagatg ctgagagggg acactggggg     1500

cccagcagac cagagagctg accccagtcc cacagcctgg gtgggttgtc aacttctcgt     1560

gccccctcca actcctccac ccccacaccc ccttaggtaa ataggaggtc gaaacagagg     1620

ccagagggta aaggaggtgc ttagagtccg ggctggctca ggccggccgg gcagctgtgc     1680

tagtgcttgg agttcctgct cagtccccgt ggtctcctcg cccctctggg cacttgggct     1740

gccaggcacc gagctgagtg ccgagatgca aagatgagtc ccaggtctgc aggagttgga     1800

gcccagcagg gagctggcct tggggccggg cccctcctgc tctgggcagc cacccagccc     1860

tacgaccctc ctgtctctgt agggcctccc caaggccttg aatccacccc ggccccgtgc     1920

tcagtgcatc atgcccccca agccccagcc ctcctagagg tgtgggtggg ggaggggctg     1980

caacccacac aggctgagga cacagctgct gccactgcct ggggccagcc acgcatcctc     2040

cccagacagg gaccggtcta gctgtaccag ccgctgcccc ggacctgctg ccctgcccca     2100

cccccccctc ccctggccag cctccccaga ggccagaagg cgccttatcg ggcagggtta     2160

aggaggggga cagttatcag gggctgcagc ctagattggg ccacaatgtc ctcgtctctt     2220

gagggtggca ggctgtgcag gctccctgat aaaagcaccg gggaagggag gctcctggag     2280

tgtgctggaa ggaaacactg gcctcccaca tgcctgaggt cagggcttgg cctgagatgg     2340

aattctcgct tggtcccatc ctcccggcct gaccctgggc aaatgactct accactttgt     2400

gtctaggtca cctgttaagt caggcgacag acccggtgag ggagtcagcc cccgaccctt     2460

agtgcccctc tcctaacagc agcctcagag ggggtcttga ctgccgccct ccatccgctt     2520

gttttacagt gaagccacag cctggccacc tgtcttgatc tccccaccga gaaggccccg     2580

cccctcccgc tgcagcccca cagcatgcag ccccaggaga gccacgtcca ctatagtagg     2640

tgggaggacg gcagcaggga cggagtcagc ctaggggctg tgtccagcac agaagaggcc     2700

tcacgctgcc gcaggtgagg ggcctgaggg cagcctgcca gccatagcag gctggtgtct     2760

ccctccagag acgcctgccc taacccctgc taccggcccc atcaccctcc accccatcct     2820

ggctgggagc ccacggtcca gcagctcagc aaaccgcagc ctttggcctt ccctctggtt     2880

ggctgtgggc ggggagagct tcctcttgac tccagcagag cgcccaggcc cctccccctg     2940

acccagacca acggccacag tccacttagg gggcccctca tgcggccctg gcctggggct     3000

cacctccagt tggttctcac cccaggatct cccagaggct gtgcacgggc aagctgggca     3060

tcgccatgaa ggtgctgggc ggcgtggccc tcttctggat catcttcatc ctgggctacc     3120

tcacaggcta ctatgtgcac aagtgcaaat aaatgctgcc ccgcatgcac gcggggggct     3180

ggccgca                                                               3187


<210>  2
<211>  3170
<212>  DNA
<213>  Homo sapiens

<400>  2
cagagacgcg gggacacagg tgaggcgcgc ggggtccggg ctgcggcttc ccggtgcggc       60

cgcagtgggc aggtgcgact gtgcgcggcc tcgctggctg agaactggcg ggggtggggg      120

cgtgccctgg actgaccccc accggcctaa cccgcggtgc ggggccaggg ccggaactgc      180

ccgcccggct ccttgcccgg ctccttgtgg ctgctgggga cccccgacac cagccacttt      240

cccttcccgg cccttagcaa gatcggcttc tccggtcacc tttatttttt taggctcgag      300

gcgtctgccg cacctcagcc cacgacctgc cccgctggga ggtgcgggcc gctggccagg      360

ccctgaccgc aacctggccc agaggcccca gccctcaggc aaggttctcc gggtaagtgt      420

ggggccctga ggcgctgtgg ggtgaagagg tctatggagg ggcgcctgtg tacctagggc      480

cttcctgcac tcacaagccc ccaggaggtg ccaggatccg ggagcctccc agggcctgga      540

ggggagtccc tgatgggttc ctgccgccac acctgtgacc atcacatgag tgtggagaga      600

cgtttactga gcaagtgagg gaggccagcc tcaagggccg gctctggtgg ctgtgcaccg      660

gggtgacttg ggaacaacgt gttctacgtc agcaagacag gaacccatga tcccagagtt      720

gaacacactg ggcttgaccc ctcccaccgg gaggcccatg gtgggctgct gctgtggact      780

tggagcctca gcactcccga gactaatgct gcgtggatgt cgggttgcaa ggcggctgct      840

gcagctccag cagctccagc catcacgtcg agtctggaag aaggaggtgg ctgctgctgc      900

tttcacagaa gcaaactctc ccatcccctg ctgcaccctg gctcctggac cccagctggg      960

tgacttggga aagcaggggt ggtggtatta agcttgtctt acccgggtca tggctgttac     1020

ctggggctgg cacattgctg ctgggaccag aatgggattc tgcacaccag gcaagagggc     1080

gtgaacctcg ggtaggcagc tgaccgctcc acatgctccg ggaaaacagc acccatactc     1140

cagtagaggc tgggcctctc cgggcctgag tgccaggctg cactgagcca gggctcccac     1200

cgaaggcaca ctttatggct ttgagacagc tccttctgcc tctctgggct ttgggggaag     1260

gcagacatgg aagtgccggg agtctcagaa ctgcctgggg cctgagtttc tgagctggct     1320

tcttgcaggg gagtggctgc tgtgccttta ggcctctgtg ccgatgacct gggaggaagg     1380

tcagccttcc ccgctggagg gggcccagca aagcctcagc tcctagaagt gaggggcctg     1440

ccattgcctg cccgaggacc ccactcctgg gggccagatg ctgagagggg acactggggg     1500

cccagcagac cagagagctg accccagtcc cacagcctgg gtgggttgtc aacttctcgt     1560

gccccctcca actcctccac ccccacaccc ccttaggtaa ataggaggtc gaaacagagg     1620

ccagagggta aaggaggtgc ttagagtccg ggctggctca ggccggccgg gcagctgtgc     1680

tagtgcttgg agttcctgct cagtccccgt ggtctcctcg cccctctggg cacttgggct     1740

gccaggcacc gagctgagtg ccgagatgca aagatgagtc ccaggtctgc aggagttgga     1800

gcccagcagg gagctggcct tggggccggg cccctcctgc tctgggcagc cacccagccc     1860

tacgaccctc ctgtctctgt agggcctccc caaggccttg aatccacccc ggccccgtgc     1920

tcagtgcatc atgcccccca agccccagcc ctcctagagg tgtgggtggg ggaggggctg     1980

caacccacac aggctgagga cacagctgct gccactgcct ggggccagcc acgcatcctc     2040

cccagacagg gaccggtcta gctgtaccag ccgctgcccc ggacctgctg ccctgcccca     2100

cccccccctc ccctggccag cctccccaga ggccagaagg cgccttatcg ggcagggtta     2160

aggaggggga cagttatcag gggctgcagc ctagattggg ccacaatgtc ctcgtctctt     2220

gagggtggca ggctgtgcag gctccctgat aaaagcaccg gggaagggag gctcctggag     2280

tgtgctggaa ggaaacactg gcctcccaca tgcctgaggt cagggcttgg cctgagatgg     2340

aattctcgct tggtcccatc ctcccggcct gaccctgggc aaatgactct accactttgt     2400

gtctaggtca cctgttaagt caggcgacag acccggtgag ggagtcagcc cccgaccctt     2460

agtgcccctc tcctaacagc agcctcagag ggggtcttga ctgccgccct ccatccgctt     2520

gttttacagt gaagccacag cctggccacc tgtcttgatc tccccaccga gaaggccccg     2580

cccctcccgc tgcagcccca cagcatgcag ccccaggaga gccacgtcca ctatagtagg     2640

tgggaggacg gcagcaggga cggagtccag cacagaagag gcctcacgct gccgcaggtg     2700

aggggcctga gggcagcctg ccagccatag caggctggtg tctccctcca gagacgcctg     2760

ccctaacccc tgctaccggc cccatcaccc tccaccccat cctggctggg agcccacggt     2820

ccagcagctc agcaaaccgc agcctttggc cttccctctg gttggctgtg ggcggggaga     2880

gcttcctctc aactccagca gagcgcccag gcccctcccc ctgacccaga ccaacggcca     2940

cagtccactt agggggcccc tcatgcggcc ctggcctggg gctcacctcc agttggttct     3000

caccccagga tctcccagag gctgtgcacg ggcaagctgg gcatcgccat gaaggtgctg     3060

ggcggcgtgg ccctcttctg gatcatcttc atcctgggct acctcacagg ctactatgtg     3120

cacaagtgca aataaatgct gccccgcatg cacgcggggg gctggccgca                3170


<210>  3
<211>  530
<212>  DNA
<213>  Homo sapiens

<400>  3
ggtgaggcgc gcggggtccg ggctgcggct tcccggtgcg gccgcagtgg gcaggctcga       60

ggcgtctgcc gcacctcagc ccacgacctg ccccgctggg aggtgcgggc cgctggccag      120

gccctgaccg caacctggcc cagaggcccc agccctcagg caaggttctc cggtgaagcc      180

acagcctggc cacctgtctt gatctcccca ccgagaaggc cccgcccctc ccgctgcagc      240

cccacagcat gcagccccag gagagccacg tccactatag taggtgggag gacggcagca      300

gggacggagt cagcctaggg gctgtgtcca gcacagaaga ggcctcacgc tgccgcagga      360

tctcccagag gctgtgcacg ggcaagctgg gcatcgccat gaaggtgctg ggcggcgtgg      420

ccctcttctg gatcatcttc atcctgggct acctcacagg ctactatgtg cacaagtgca      480

aataaatgct gccccgcatg cacgcggggg gctggccgca aaaaaaaaaa                 530


<210>  4
<211>  513
<212>  DNA
<213>  Homo sapiens

<400>  4
ggtgaggcgc gcggggtccg ggctgcggct tcccggtgcg gccgcagtgg gcaggctcga       60

ggcgtctgcc gcacctcagc ccacgacctg ccccgctggg aggtgcgggc cgctggccag      120

gccctgaccg caacctggcc cagaggcccc agccctcagg caaggttctc cggtgaagcc      180

acagcctggc cacctgtctt gatctcccca ccgagaaggc cccgcccctc ccgctgcagc      240

cccacagcat gcagccccag gagagccacg tccactatag taggtgggag gacggcagca      300

gggacggagt ccagcacaga agaggcctca cgctgccgca ggatctccca gaggctgtgc      360

acgggcaagc tgggcatcgc catgaaggtg ctgggcggcg tggccctctt ctggatcatc      420

ttcatcctgg gctacctcac aggctactat gtgcacaagt gcaaataaat gctgccccgc      480

atgcacgcgg ggggctggcc gcaaaaaaaa aaa                                   513


<210>  5
<211>  78
<212>  PRT
<213>  Homo sapiens

<400>  5

Met Gln Pro Gln Glu Ser His Val His Tyr Ser Arg Trp Glu Asp Gly 
1               5                   10                  15      


Ser Arg Asp Gly Val Ser Leu Gly Ala Val Ser Ser Thr Glu Glu Ala 
            20                  25                  30          


Ser Arg Cys Arg Arg Ile Ser Gln Arg Leu Cys Thr Gly Lys Leu Gly 
        35                  40                  45              


Ile Ala Met Lys Val Leu Gly Gly Val Ala Leu Phe Trp Ile Ile Phe 
    50                  55                  60                  


Ile Leu Gly Tyr Leu Thr Gly Tyr Tyr Val His Lys Cys Lys 
65                  70                  75              


<210>  6
<211>  15
<212>  PRT
<213>  Homo sapiens

<400>  6

Met Gln Pro Gln Glu Ser His Val His Tyr Ser Arg Trp Glu Asp 
1               5                   10                  15  


<210>  7
<211>  15
<212>  PRT
<213>  Homo sapiens

<400>  7

Ser Arg Trp Glu Asp Gly Ser Arg Asp Gly Val Ser Leu Gly Ala 
1               5                   10                  15  


<210>  8
<211>  15
<212>  PRT
<213>  Homo sapiens

<400>  8

Gly Val Ser Leu Gly Ala Val Ser Ser Thr Glu Glu Ala Ser Arg 
1               5                   10                  15  


<210>  9
<211>  15
<212>  PRT
<213>  Homo sapiens

<400>  9

Glu Ala Ser Arg Cys Arg Arg Ile Ser Gln Arg Leu Cys Thr Gly 
1               5                   10                  15  


<210>  10
<211>  16
<212>  PRT
<213>  Homo sapiens

<400>  10

Cys Pro Glu Ser Trp His Ser Tyr Met Arg Val Gln His Glu Gln Asp 
1               5                   10                  15      


<210>  11
<211>  18
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  cDNA primer 388588cDNAf

<400>  11
cgcacctcag cccacgac                                                     18


<210>  12
<211>  19
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  cDNA primer 388588cDNAr

<400>  12
tccaggcctg tgctctcac                                                    19


<210>  13
<211>  33
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  Vel negativeF PCR primer

<400>  13
gccgaattcg ccaccatgca gccccaggag agc                                    33


<210>  14
<211>  33
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  Vel negativeR2 PCR primer

<400>  14
gccggatccc ccttatttgc acttgtgcac ata                                    33


<210>  15
<211>  20
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  388588int2f PCR primer

<400>  15
tctcctaaca gcagcctcag                                                   20


<210>  16
<211>  19
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  388588ex4r PCR primer

<400>  16
tgtctccagg cctgtgctc                                                    19


<210>  17
<211>  19
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  388588int3f PCR primer

<400>  17
cagctcagca aaccgcagc                                                    19


<210>  18
<211>  18
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  388588int3r PCR primer

<400>  18
ggcgctctgc tggagtca                                                     18


<210>  19
<211>  18
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  388588int3r2 PCR primer

<400>  19
ctgggcgctc tgctggag                                                     18


<210>  20
<211>  18
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  Allele specific PCR primer - 388588wtex3f

<400>  20
cggagtcagc ctaggggc                                                     18


<210>  21
<211>  18
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  Allele specific PCR primer - 388588mutex3f

<400>  21
ggacggagtc cagcacag                                                     18


<210>  22
<211>  21
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  LOCex3f_screen PCR primer

<400>  22
acagcctggc cacctgtctt g                                                 21


<210>  23
<211>  17
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  LOCex3r_screen PCR primer

<400>  23
ctgcggcagc gtgaggc                                                      17


<210>  24
<211>  19
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  RACE primer Vel 59F

<400>  24
ggccgcagtg ggcaggctc                                                    19


<210>  25
<211>  22
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  RACE primer Vel 176F

<400>  25
ctcaggcaag gttctccggt ga                                                22


<210>  26
<211>  22
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  RACE primer Vel 280F

<400>  26
aggagagcca cgtccactat ag                                                22


<210>  27
<211>  22
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  RACE primer Vel 332R

<400>  27
gcagcgtgag gcctcttctg tg                                                22


<210>  28
<211>  22
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  RACE primer Vel 355R

<400>  28
cacagcctct gggagatcct gc                                                22


<210>  29
<211>  20
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  RACE primer Vel 376R

<400>  29
gatgcccagc ttgcccgtgc                                                   20


<210>  30
<211>  185
<212>  DNA
<213>  Homo sapiens


<220>
<221>  misc_feature
<222>  (1)..(185)
<223>  Exon 3 of SMIM1

<400>  30
tgaagccaca gcctggccac ctgtcttgat ctccccaccg agaaggcccc gcccctcccg       60

ctgcagcccc acagcatgca gccccaggag agccacgtcc actatagtag gtgggaggac      120

ggcagcaggg acggagtcag cctaggggct gtgtccagca cagaagaggc ctcacgctgc      180

cgcag                                                                  185


<210>  31
<211>  17
<212>  DNA
<213>  Homo sapiens


<220>
<221>  misc_feature
<222>  (1)..(17)
<223>  Sequence of 17bp deletion

<400>  31
agcctagggg ctgtgtc                                                      17


<210>  32
<211>  3778
<212>  DNA
<213>  Homo sapiens


<220>
<221>  misc_feature
<222>  (1)..(3778)
<223>  SMIM1-mutant phenotype extended to subsequent stop codon

<400>  32
ggtgaggcgc gcggggtccg ggctgcggct tcccggtgcg gccgcagtgg gcaggtgcga       60

ctgtgcgcgg cctcgctggc tgagaactgg cgggggtggg ggcgtgccct ggactgaccc      120

ccaccggcct aacccgcggt gcggggccag ggccggaact gcccgcccgg ctccttgccc      180

ggctccttgt ggctgctggg gacccccgac accagccact ttcccttccc ggcccttagc      240

aagatcggct tctccggtca cctttatttt tttaggctcg aggcgtctgc cgcacctcag      300

cccacgacct gccccgctgg gaggtgcggg ccgctggcca ggccctgacc gcaacctggc      360

ccagaggccc cagccctcag gcaaggttct ccgggtaagt gtggggccct gaggcgctgt      420

ggggtgaaga ggtctatgga ggggcgcctg tgtacctagg gccttcctgc actcacaagc      480

ccccaggagg tgccaggatc cgggagcctc ccagggcctg gaggggagtc cctgatgggt      540

tcctgccgcc acacctgtga ccatcacatg agtgtggaga gacgtttact gagcaagtga      600

gggaggccag cctcaagggc cggctctggt ggctgtgcac cggggtgact tgggaacaac      660

gtgttctacg tcagcaagac aggaacccat gatcccagag ttgaacacac tgggcttgac      720

ccctcccacc gggaggccca tggtgggctg ctgctgtgga cttggagcct cagcactccc      780

gagactaatg ctgcgtggat gtcgggttgc aaggcggctg ctgcagctcc agcagctcca      840

gccatcacgt cgagtctgga agaaggaggt ggctgctgct gctttcacag aagcaaactc      900

tcccatcccc tgctgcaccc tggctcctgg accccagctg ggtgacttgg gaaagcaggg      960

gtggtggtat taagcttgtc ttacccgggt catggctgtt acctggggct ggcacattgc     1020

tgctgggacc agaatgggat tctgcacacc aggcaagagg gcgtgaacct cgggtaggca     1080

gctgaccgct ccacatgctc cgggaaaaca gcacccatac tccagtagag gctgggcctc     1140

tccgggcctg agtgccaggc tgcactgagc cagggctccc accgaaggca cactttatgg     1200

ctttgagaca gctccttctg cctctctggg ctttggggga aggcagacat ggaagtgccg     1260

ggagtctcag aactgcctgg ggcctgagtt tctgagctgg cttcttgcag gggagtggct     1320

gctgtgcctt taggcctctg tgccgatgac ctgggaggaa ggtcagcctt ccccgctgga     1380

gggggcccag caaagcctca gctcctagaa gtgaggggcc tgccattgcc tgcccgagga     1440

ccccactcct gggggccaga tgctgagagg ggacactggg ggcccagcag accagagagc     1500

tgaccccagt cccacagcct gggtgggttg tcaacttctc gtgccccctc caactcctcc     1560

acccccacac ccccttaggt aaataggagg tcgaaacaga ggccagaggg taaaggaggt     1620

gcttagagtc cgggctggct caggccggcc gggcagctgt gctagtgctt ggagttcctg     1680

ctcagtcccc gtggtctcct cgcccctctg ggcacttggg ctgccaggca ccgagctgag     1740

tgccgagatg caaagatgag tcccaggtct gcaggagttg gagcccagca gggagctggc     1800

cttggggccg ggcccctcct gctctgggca gccacccagc cctacgaccc tcctgtctct     1860

gtagggcctc cccaaggcct tgaatccacc ccggccccgt gctcagtgca tcatgccccc     1920

caagccccag ccctcctaga ggtgtgggtg ggggaggggc tgcaacccac acaggctgag     1980

gacacagctg ctgccactgc ctggggccag ccacgcatcc tccccagaca gggaccggtc     2040

tagctgtacc agccgctgcc ccggacctgc tgccctgccc cacccccccc tcccctggcc     2100

agcctcccca gaggccagaa ggcgccttat cgggcagggt taaggagggg gacagttatc     2160

aggggctgca gcctagattg ggccacaatg tcctcgtctc ttgagggtgg caggctgtgc     2220

aggctccctg ataaaagcac cggggaaggg aggctcctgg agtgtgctgg aaggaaacac     2280

tggcctccca catgcctgag gtcagggctt ggcctgagat ggaattctcg cttggtccca     2340

tcctcccggc ctgaccctgg gcaaatgact ctaccacttt gtgtctaggt cacctgttaa     2400

gtcaggcgac agacccggtg agggagtcag cccccgaccc ttagtgcccc tctcctaaca     2460

gcagcctcag agggggtctt gactgccgcc ctccatccgc ttgttttaca gtgaagccac     2520

agcctggcca cctgtcttga tctccccacc gagaaggccc cgcccctccc gctgcagccc     2580

cacagcatgc agccccagga gagccacgtc cactatagta ggtgggagga cggcagcagg     2640

gacggagtcc agcacagaag aggcctcacg ctgccgcagg tgaggggcct gagggcagcc     2700

tgccagccat agcaggctgg tgtctccctc cagagacgcc tgccctaacc cctgctaccg     2760

gccccatcac cctccacccc atcctggctg ggagcccacg gtccagcagc tcagcaaacc     2820

gcagcctttg gccttccctc tggttggctg tgggcgggga gagcttcctc tcaactccag     2880

cagagcgccc aggcccctcc ccctgaccca gaccaacggc cacagtccac ttagggggcc     2940

cctcatgcgg ccctggcctg gggctcacct ccagttggtt ctcaccccag gatctcccag     3000

aggctgtgca cgggcaagct gggcatcgcc atgaaggtgc tgggcggcgt ggccctcttc     3060

tggatcatct tcatcctggg ctacctcaca ggctactatg tgcacaagtg caaataaatg     3120

ctgccccgca tgcacgcggg gggctggccg cacacgtgag agcacaggcc tggagacaca     3180

ccccttgtac acatggaccc ccccacagac acggaccctg cggcacacac agcgcacagg     3240

gcacacgcgc tggcagccag gcacacgaag acaccaggtg cacagctgtc atcggcccca     3300

cacgggggcg cacaaacacc tggcacacag cccttcaaag gacctacaaa cagctgggca     3360

cacgtggctg ggaggcctgg gcccagcctc agcaggagct gcaggacaca cccaggctgg     3420

gccctgcggc ctggagcccc cagctacagc ctcctctctc ccagggccca gccccttccc     3480

ttgtgaaggc caggatgagg ggttccttca gcggacaaac cgagcccacc tccctggcag     3540

ccccccgggg tgggatcctc ccggctgctt tcctccgtgg gagcagtgtg cagagctgtg     3600

tggccctggg caggcccctg tcctctctgg gcctttctga ctcctggttt tgtaagggtg     3660

gctatgtgtc ccccgccctt gtctcagatg caccatatct tccttagtaa gtgggcacag     3720

ttcttcctag gcagcccacc acgcgcagag gctgggtgtg tccctcttgg ggccggcg       3778


<210>  33
<211>  3195
<212>  DNA
<213>  Homo sapiens


<220>
<221>  misc_feature
<222>  (1)..(3195)
<223>  SMIM1 var 1 (chr1:3691980 A/G)

<400>  33
ggtgaggcgc gcggggtccg ggctgcggct tcccggtgcg gccgcagtgg gcaggtgcga       60

ctgtgcgcgg cctcgctggc tgagaactgg cgggggtggg ggcgtgccct ggactgaccc      120

ccaccggcct aacccgcggt gcggggccag ggccggaact gcccgcccgg ctccttgccc      180

ggctccttgt ggctgctggg gacccccgac accagccact ttcccttccc ggcccttagc      240

aagatcggct tctccggtca cctttatttt tttaggctcg aggcgtctgc cgcacctcag      300

cccacgacct gccccgctgg gaggtgcggg ccgctggcca ggccctgacc gcaacctggc      360

ccagaggccc cagccctcag gcaaggttct ccgggtaagt gtggggccct gaggcgctgt      420

ggggtgaaga ggtctatgga ggggcgcctg tgtacctagg gccttcctgc actcacaagc      480

ccccaggagg tgccaggatc cgggagcctc ccagggcctg gaggggagtc cctgatgggt      540

tcctgccgcc acacctgtga ccatcacatg agtgtggaga gacgtttact gagcaagtga      600

gggaggccag cctcaagggc cggctctggt ggctgtgcac cggggtgact tgggaacaac      660

gtgttctacg tcagcaagac aggaacccat gatcccagag ttgaacacac tgggcttgac      720

ccctcccacc gggaggccca tggtgggctg ctgctgtgga cttggagcct cagcactccc      780

gagactaatg ctgcgtggat gtcgggttgc aaggcggctg ctgcagctcc agcagctcca      840

gccatcacgt cgagtctgga agaaggaggt ggctgctgct gctttcacag aagcaaactc      900

tcccatcccc tgctgcaccc tggctcctgg accccagctg ggtgacttgg gaaagcaggg      960

gtggtggtat taagcttgtc ttacccgggt catggctgtt acctggggct ggcacattgc     1020

tgctgggacc agaatgggat tctgcacacc aggcaagagg gcgtgaacct cgggtaggca     1080

gctgaccgct ccacatgctc cgggaaaaca gcacccatac tccagtagag gctgggcctc     1140

tccgggcctg agtgccaggc tgcactgagc cagggctccc accgaaggca cactttatgg     1200

ctttgagaca gctccttctg cctctctggg ctttggggga aggcagacat ggaagtgccg     1260

ggagtctcag aactgcctgg ggcctgagtt tctgagctgg cttcttgcag gggagtggct     1320

gctgtgcctt taggcctctg tgccgatgac ctgggaggaa ggtcagcctt ccccgctgga     1380

gggggcccag caaagcctca gctcctagaa gtgaggggcc tgccattgcc tgcccgagga     1440

ccccactcct gggggccaga tgctgagagg ggacactggg ggcccagcag accagagagc     1500

tgaccccagt cccacagcct gggtgggttg tcaacttctc gtgccccctc caactcctcc     1560

acccccacac ccccttaggt aaataggagg tcgaaacaga ggccagaggg taaaggaggt     1620

gcttagagtc cgggctggct caggccggcc gggcagctgt gctagtgctt ggagttcctg     1680

ctcagtcccc gtggtctcct cgcccctctg ggcacttggg ctgccaggca ccgagctgag     1740

tgccgagatg caaagatgag tcccaggtct gcaggagttg gagcccagca gggagctggc     1800

cttggggccg ggcccctcct gctctgggca gccacccagc cctacgaccc tcctgtctct     1860

gtagggcctc cccaaggcct tgaatccacc ccggccccgt gctcagtgca tcatgccccc     1920

caagccccag ccctcctaga ggtgtgggtg ggggaggggc tgcaacccac acaggctgag     1980

gacacagctg ctgccactgc ctggggccag ccacgcatcc tccccagaca gggaccggtc     2040

tagctgtacc agccgctgcc ccggacctgc tgccctgccc cacccccccc tcccctggcc     2100

agcctcccca gaggccagaa ggcgccttat cgggcagggt taaggagggg gacagttatc     2160

aggggctgca gcctagattg ggccacaatg tcctcgtctc ttgagggtgg caggctgtgc     2220

aggctccctg ataaaagcac cggggaaggg aggctcctgg agtgtgctgg aaggaaacac     2280

tggcctccca catgcctgag gtcagggctt ggcctgagat ggaattctcg cttggtccca     2340

tcctcccggc ctgaccctgg gcaaatgact ctaccacttt gtgtctaggt cacctgttaa     2400

gtcaggcgac agacccggtg agggagtcag cccccgaccc ttagtgcccc tctcctaaca     2460

gcagcctcag agggggtctt gactgccgcc ctccatccgc ttgttttaca gtgaagccac     2520

agcctggcca cctgtcttga tctccccacc gagaaggccc cgcccctccc gctgcagccc     2580

cacagcatgc agccccagga gagccacgtc cactatagta ggtgggagaa cggcagcagg     2640

gacggagtca gcctaggggc tgtgtccagc acagaagagg cctcacgctg ccgcaggtga     2700

ggggcctgag ggcagcctgc cagccatagc aggctggtgt ctccctccag agacgcctgc     2760

cctaacccct gctaccggcc ccatcaccct ccaccccatc ctggctggga gcccacggtc     2820

cagcagctca gcaaaccgca gcctttggcc ttccctctgg ttggctgtgg gcggggagag     2880

cttcctcttg actccagcag agcgcccagg cccctccccc tgacccagac caacggccac     2940

agtccactta gggggcccct catgcggccc tggcctgggg ctcacctcca gttggttctc     3000

accccaggat ctcccagagg ctgtgcacgg gcaagctggg catcgccatg aaggtgctgg     3060

gcggcgtggc cctcttctgg atcatcttca tcctgggcta cctcacaggc tactatgtgc     3120

acaagtgcaa ataaatgctg ccccgcatgc acgcgggggg ctggccgcac acgtgagagc     3180

acaggcctgg agaca                                                      3195


<210>  34
<211>  3195
<212>  DNA
<213>  Homo sapiens


<220>
<221>  misc_feature
<222>  (1)..(3195)
<223>  SMIM1 var 2 (chr1:3691980 A/G)

<400>  34
ggtgaggcgc gcggggtccg ggctgcggct tcccggtgcg gccgcagtgg gcaggtgcga       60

ctgtgcgcgg cctcgctggc tgagaactgg cgggggtggg ggcgtgccct ggactgaccc      120

ccaccggcct aacccgcggt gcggggccag ggccggaact gcccgcccgg ctccttgccc      180

ggctccttgt ggctgctggg gacccccgac accagccact ttcccttccc ggcccttagc      240

aagatcggct tctccggtca cctttatttt tttaggctcg aggcgtctgc cgcacctcag      300

cccacgacct gccccgctgg gaggtgcggg ccgctggcca ggccctgacc gcaacctggc      360

ccagaggccc cagccctcag gcaaggttct ccgggtaagt gtggggccct gaggcgctgt      420

ggggtgaaga ggtctatgga ggggcgcctg tgtacctagg gccttcctgc actcacaagc      480

ccccaggagg tgccaggatc cgggagcctc ccagggcctg gaggggagtc cctgatgggt      540

tcctgccgcc acacctgtga ccatcacatg agtgtggaga gacgtttact gagcaagtga      600

gggaggccag cctcaagggc cggctctggt ggctgtgcac cggggtgact tgggaacaac      660

gtgttctacg tcagcaagac aggaacccat gatcccagag ttgaacacac tgggcttgac      720

ccctcccacc gggaggccca tggtgggctg ctgctgtgga cttggagcct cagcactccc      780

gagactaatg ctgcgtggat gtcgggttgc aaggcggctg ctgcagctcc agcagctcca      840

gccatcacgt cgagtctgga agaaggaggt ggctgctgct gctttcacag aagcaaactc      900

tcccatcccc tgctgcaccc tggctcctgg accccagctg ggtgacttgg gaaagcaggg      960

gtggtggtat taagcttgtc ttacccgggt catggctgtt acctggggct ggcacattgc     1020

tgctgggacc agaatgggat tctgcacacc aggcaagagg gcgtgaacct cgggtaggca     1080

gctgaccgct ccacatgctc cgggaaaaca gcacccatac tccagtagag gctgggcctc     1140

tccgggcctg agtgccaggc tgcactgagc cagggctccc accgaaggca cactttatgg     1200

ctttgagaca gctccttctg cctctctggg ctttggggga aggcagacat ggaagtgccg     1260

ggagtctcag aactgcctgg ggcctgagtt tctgagctgg cttcttgcag gggagtggct     1320

gctgtgcctt taggcctctg tgccgatgac ctgggaggaa ggtcagcctt ccccgctgga     1380

gggggcccag caaagcctca gctcctagaa gtgaggggcc tgccattgcc tgcccgagga     1440

ccccactcct gggggccaga tgctgagagg ggacactggg ggcccagcag accagagagc     1500

tgaccccagt cccacagcct gggtgggttg tcaacttctc gtgccccctc caactcctcc     1560

acccccacac ccccttaggt aaataggagg tcgaaacaga ggccagaggg taaaggaggt     1620

gcttagagtc cgggctggct caggccggcc gggcagctgt gctagtgctt ggagttcctg     1680

ctcagtcccc gtggtctcct cgcccctctg ggcacttggg ctgccaggca ccgagctgag     1740

tgccgagatg caaagatgag tcccaggtct gcaggagttg gagcccagca gggagctggc     1800

cttggggccg ggcccctcct gctctgggca gccacccagc cctacgaccc tcctgtctct     1860

gtagggcctc cccaaggcct tgaatccacc ccggccccgt gctcagtgca tcatgccccc     1920

caagccccag ccctcctaga ggtgtgggtg ggggaggggc tgcaacccac acaggctgag     1980

gacacagctg ctgccactgc ctggggccag ccacgcatcc tccccagaca gggaccggtc     2040

tagctgtacc agccgctgcc ccggacctgc tgccctgccc cacccccccc tcccctggcc     2100

agcctcccca gaggccagaa ggcgccttat cgggcagggt taaggagggg gacagttatc     2160

aggggctgca gcctagattg ggccacaatg tcctcgtctc ttgagggtgg caggctgtgc     2220

aggctccctg ataaaagcac cggggaaggg aggctcctgg agtgtgctgg aaggaaacac     2280

tggcctccca catgcctgag gtcagggctt ggcctgagat ggaattctcg cttggtccca     2340

tcctcccggc ctgaccctgg gcaaatgact ctaccacttt gtgtctaggt cacctgttaa     2400

gtcaggcgac agacccggtg agggagtcag cccccgaccc ttagtgcccc tctcctaaca     2460

gcagcctcag agggggtctt gactgccgcc ctccatccgc ttgttttaca gtgaagccac     2520

agcctggcca cctgtcttga tctccccacc gagaaggccc cgcccctccc gctgcagccc     2580

cacagcatgc agccccagga gagccacgtc cactatagta ggtgggagga cggcagcagg     2640

gacggagtca gcctaggggc tgtgtccagc acagaagagg cctcacgctg ccgcaggtga     2700

ggggcctgag ggcagcctgc cagccatagc aggctggtgt ctccctccag agacgcctgc     2760

cctaacccct gctaccggcc ccatcaccct ccaccccatc ctggctggga gcccacggtc     2820

cagcagctca gcaaaccgca gcctttggcc ttccctctgg ttggctgtgg gcggggagag     2880

cttcctcttg actccagcag agcgcccagg cccctccccc tgacccagac caacggccac     2940

agtccactta gggggcccct catgcggccc tggcctgggg ctcacctcca gttggttctc     3000

accccaggat ctcccagagg ctgtgcacgg gcaagctggg catcgccatg aaggtgctgg     3060

gcggcgtggc cctcttctgg atcatcttca tcctgggcta cctcacaggc tactatatgc     3120

acaagtgcaa ataaatgctg ccccgcatgc acgcgggggg ctggccgcac acgtgagagc     3180

acaggcctgg agaca                                                      3195


<210>  35
<211>  497
<212>  DNA
<213>  Homo sapiens


<220>
<221>  misc_feature
<222>  (1)..(497)
<223>  cDNA of SMIM1 variant (transcript according to 5' and 3' RACE in 
       blood)

<400>  35
cagagacgcg gggacacagg ctcgaggcgt ctgccgcacc tcagcccacg acctgccccg       60

ctgggaggtg cgggccgctg gccaggccct gaccgcaacc tggcccagag gccccagccc      120

tcaggcaagg ttctccggtg aagccacagc ctggccacct gtcttgatct ccccaccgag      180

aaggccccgc ccctcccgct gcagccccac agcatgcagc cccaggagag ccacgtccac      240

tatagtaggt gggaggacgg cagcagggac ggagtcagcc taggggctgt gtccagcaca      300

gaagaggcct cacgctgccg caggatctcc cagaggctgt gcacgggcaa gctgggcatc      360

gccatgaagg tgctgggcgg cgtggccctc ttctggatca tcttcatcct gggctacctc      420

acaggctact atgtgcacaa gtgcaaataa atgctgcccc gcatgcacgc ggggggctgg      480

ccgcaaaaaa aaaaaaa                                                     497


<210>  36
<211>  480
<212>  DNA
<213>  Homo sapiens


<220>
<221>  misc_feature
<222>  (1)..(480)
<223>  cDNA of SMIM1 variant (transcript according to 5' and 3' RACE in 
       blood; 17bp deletion)

<400>  36
cagagacgcg gggacacagg ctcgaggcgt ctgccgcacc tcagcccacg acctgccccg       60

ctgggaggtg cgggccgctg gccaggccct gaccgcaacc tggcccagag gccccagccc      120

tcaggcaagg ttctccggtg aagccacagc ctggccacct gtcttgatct ccccaccgag      180

aaggccccgc ccctcccgct gcagccccac agcatgcagc cccaggagag ccacgtccac      240

tatagtaggt gggaggacgg cagcagggac ggagtccagc acagaagagg cctcacgctg      300

ccgcaggatc tcccagaggc tgtgcacggg caagctgggc atcgccatga aggtgctggg      360

cggcgtggcc ctcttctgga tcatcttcat cctgggctac ctcacaggct actatgtgca      420

caagtgcaaa taaatgctgc cccgcatgca cgcggggggc tggccgcaaa aaaaaaaaaa      480


