(used for mutation description)
(last modified December 15, 2009)
This file was created to facilitate the description of sequence variants in the SGCB gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008891.1, covering SGCB transcript NM_000232.4.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . . . . . g.60
gcggtcgcggaggggcgggcacagtcgggcggggagctcggcggcggcgggcgcgggaag c.-1
. . . | 02 . . . g.4706
ATGGCGGCAGCGGCGGCGGCGGCTGCAGAACAG | CAAAGTTCCAATGGTCCTGTAAAGAAG c.60
M A A A A A A A A E Q | Q S S N G P V K K p.20
. . . . . . g.4766
TCCATGCGTGAGAAGGCTGTTGAGAGAAGGAGTGTCAATAAAGAGCACAACAGTAACTTT c.120
S M R E K A V E R R S V N K E H N S N F p.40
. . . . . . g.4826
AAAGCTGGATACATTCCGATTGATGAAGATCGTCTCCACAAAACAGGGTTGAGAGGAAGA c.180
K A G Y I P I D E D R L H K T G L R G R p.60
. . . . . . g.4886
AAGGGCAATTTAGCCATCTGTGTGATTATCCTCTTGTTTATCCTGGCTGTCATCAATTTA c.240
K G N L A I C V I I L L F I L A V I N L p.80
| 03 . . . . . . g.8513
ATA | ATAACACTTGTTATTTGGGCCGTGATTCGCATTGGACCAAATGGCTGTGATAGTATG c.300
I | I T L V I W A V I R I G P N G C D S M p.100
. . . . . . g.8573
GAGTTTCATGAAAGTGGCCTGCTTCGATTTAAGCAAGTATCTGACATGGGAGTGATCCAC c.360
E F H E S G L L R F K Q V S D M G V I H p.120
. . . . . . g.8633
CCTCTTTATAAAAGCACAGTAGGAGGAAGGCGAAATGAAAATTTGGTCATCACTGGCAAC c.420
P L Y K S T V G G R R N E N L V I T G N p.140
| 04 . . . . . g.9449
AACCAGCCT | ATTGTTTTTCAGCAAGGGACAACAAAGCTCAGTGTAGAAAACAACAAAACT c.480
N Q P | I V F Q Q G T T K L S V E N N K T p.160
. . . . . . g.9509
TCTATTACAAGTGACATCGGCATGCAGTTTTTTGACCCGAGGACTCAAAATATCTTATTC c.540
S I T S D I G M Q F F D P R T Q N I L F p.180
. . . . . . g.9569
AGCACAGACTATGAAACTCATGAGTTTCATTTGCCAAGTGGAGTGAAAAGTTTGAATGTT c.600
S T D Y E T H E F H L P S G V K S L N V p.200
. . | 05 . . . . g.10259
CAAAAGGCATCTACTGAAAGG | ATTACCAGCAATGCTACCAGTGATTTAAATATAAAAGTT c.660
Q K A S T E R | I T S N A T S D L N I K V p.220
. . . . . . g.10319
GATGGGCGTGCTATTGTGCGTGGAAATGAAGGTGTATTCATTATGGGCAAAACCATTGAA c.720
D G R A I V R G N E G V F I M G K T I E p.240
. . . | 06 . . . g.14186
TTTCACATGGGTGGTAATATGGAGTTAAAGGCG | GAAAACAGTATCATCCTAAATGGATCT c.780
F H M G G N M E L K A | E N S I I L N G S p.260
. . . . . . g.14246
GTGATGGTCAGCACCACCCGCCTACCCAGTTCCTCCAGTGGAGACCAGTTGGGTAGTGGT c.840
V M V S T T R L P S S S S G D Q L G S G p.280
. . . . . . g.14306
GACTGGGTACGCTACAAGCTCTGCATGTGTGCTGATGGGACGCTCTTCAAGGTGCAAGTA c.900
D W V R Y K L C M C A D G T L F K V Q V p.300
. . . . . g.14363
ACCAGCCAGAACATGGGCTGCCAAATCTCAGACAACCCCTGTGGAAACACTCATTAA c.957
T S Q N M G C Q I S D N P C G N T H X p.318
. . . . . . g.14423
aagaaccccagaggtcaccaacatgtttatatcttgacttgacttttttatgcatgcaaa c.*60
. . . . . . g.14483
tcattgtttttacagagtttgtgataactcataattattttaatggcagagcactgctgt c.*120
. . . . . . g.14543
atctgttttatggtctacatagttaaaatcttctcagagagcctaaattctaatacattt c.*180
. . . . . . g.14603
tattaatttatactaatcttcatatttactgttctctaaaataattatgagaagcaaata c.*240
. . . . . . g.14663
aaatcaaaagtcatgtttaaagacgtgtttttaaaattccactatcccttttctaaaggt c.*300
. . . . . . g.14723
taaaggtctgaagcagctgtttagattcactgtaagtaaactttggtaactctaatgggg c.*360
. . . . . . g.14783
atagacccacttaagatatttaaaaaggtatggcatcagcgtttcatgctctgcctttta c.*420
. . . . . . g.14843
gcttctaaaaggaaagatgcagatttctagtgcattaagcctgagccatattctcacatg c.*480
. . . . . . g.14903
caagtgaagtcattaaagaactttacatatgtgagatagaaacaatggttccttagtttt c.*540
. . . . . . g.14963
gcactgggaagaaaatattttgtaaaagaatgtttatttgaaataatgataactatcaat c.*600
. . . . . . g.15023
tgttcacaatgtggtggaaattaaaacaccatctcagctttaacttttaaataataatga c.*660
. . . . . . g.15083
taactatctttattgagcatcttctacatcctaggcattgtcctaggcattgcatgttta c.*720
. . . . . . g.15143
tatccccaattctcaccacaaccctgcaagtaggtggtattatccaagttttacccatta c.*780
. . . . . . g.15203
agaaactgaagatcagagaagttaagaaacttgctcaacatcatatagtaagtagcagag c.*840
. . . . . . g.15263
ttgggattggaattcaggcatgactcaaacctggatgtacttgattccaaatgccatgtt c.*900
. . . . . . g.15323
gttttcactctctgcactgactttttaattatttaaaactctagaaagatgaacaaaggt c.*960
. . . . . . g.15383
taatttaaacttacctaagaagatgagaatcaaacaaaacagatatgcttactctagtta c.*1020
. . . . . . g.15443
aaaagaaaataaatctcatgtcagacccagaaaggaccaatcactgtccgattgtaagct c.*1080
. . . . . . g.15503
atgttgggccaattccaaaatattatacgatggagaggtcaaatttacctacttctgagt c.*1140
. . . . . . g.15563
tacctcagtttcccaacaatggaccttggcacactggagtaacaatacataacagagttg c.*1200
. . . . . . g.15623
ccaagatatttataccctcagcactcggggcaacacagtggaaagtggggaggccataga c.*1260
. . . . . . g.15683
cccaaacaagttctttgggccaggcatggcctagtaagtacaccatgcctcgaaaataag c.*1320
. . . . . . g.15743
tccagaagcactggactaaagagtgctaatgcaggaaataatacacataatttttaggta c.*1380
. . . . . . g.15803
aggataataatttatctctgctcctaatattactatcccattgtaattatttataaccct c.*1440
. . . . . . g.15863
caagccagttgatttttaatatatttgattggaaaagaactctctggtattattaagact c.*1500
. . . . . . g.15923
cacacagaatcagggacagggcccccaaaggagtttgctgtaaaataggcagtagagttg c.*1560
. . . . . . g.15983
tggcatgggcccaaccctgcattcaagtgtaacagcattctgtcagggtcactttgaatt c.*1620
. . . . . . g.16043
gtgcacataagaaaaccaatacaaaaaacaatttgtattcaatattgtcacatttctctc c.*1680
. . . . . . g.16103
tggtagaaaaatcaaataccttagagattatgaagtcattaatttatactgaaattggat c.*1740
. . . . . . g.16163
tgacttactacctaacactgagcgctgtttttaaatgaaaagaatgagatttataaccac c.*1800
. . . . . . g.16223
ttgagtgttattgcagtgatatttgaactcatttgaatatattcagtatcatttaatgtc c.*1860
. . . . . . g.16283
tgaattcagaaaaaaatgccgaaatttttattcagatggtccataaattaaattgcatat c.*1920
. . . . . . g.16343
tcattacttatctgctctatttagatttattttaaaagtttatttaagtaaatattttta c.*1980
. . . . . . g.16403
taaaaaccagaaaacactgtattacaaaatattatttattaaatgtagttcaggaaataa c.*2040
. . . . . . g.16463
tctatttttactcttttttgggaaatacttgtgtttttgatacatctccatgaagttctt c.*2100
. . . . . . g.16523
ttgagaggagaggctattttgatgtttttatacaactgaaggttaacagccatagcattt c.*2160
. . . . . . g.16583
tatgatactttacaggtagtcctggctttttccctgaaacataagcttggaaaatctatt c.*2220
. . . . . . g.16643
agaaagcagaacagggcaaactctccattttacttatggcttttctaatttttaattaat c.*2280
. . . . . . g.16703
taatttatttttttgagacagagtcttgttctgtcgccaggctggagtgcagtggcacaa c.*2340
. . . . . . g.16763
tctcggctctcggctcactgcaacctctgcctcccaggttcaagcgattctcctgcctca c.*2400
. . . . . . g.16823
gcctcccgagtacctgggactacaggcatgtgccacagttcccggctaatttttgtattt c.*2460
. . . . . . g.16883
ttagtagagacggggtttcaccatgttggccaggatggtctcaatctcttgacctcgtga c.*2520
. . . . . . g.16943
tctgcctgccttggcctcccaaagtgctgggattacaggtgtgagccaccacgcctggcc c.*2580
. . . . . . g.17003
ggcttatttttatccacagtaaatcttcagcaactcattgtctccaccagatagtatttt c.*2640
. . . . . . g.17063
tctgtaaatgaaatgctgacttcgcctcttcctgctgtatgctcatccctgcactgagca c.*2700
. . . . . . g.17123
cagatatgacaagcagtagccatgggggaggtgggtgacaaagataggaccccgggaggg c.*2760
. . . . . . g.17183
ggcgcaggtacatgctagtttcaattaccacagtattctagagacgggttgcaatgacaa c.*2820
. . . . . . g.17243
ggggggcaaatgaaatcaatgcaagatttcttaataatgggcagacagaaaaatgtaaaa c.*2880
. . . . . . g.17303
ccacacaaaacggactgctgataatattttaaaatatacttatttgtcttctttttgcat c.*2940
. . . . . . g.17363
tgtgaaaaaaacaaaataaattttgtgtgataattttgatgatgaaaggtggaagttcta c.*3000
. . . . . . g.17423
cctagatttgaatgagtgtttttttaagggaatgagaatgtcatggtgctaaacctgaca c.*3060
. . . . . . g.17483
aataagagatcattgaaatgctgaaaattttaacagtcttcttaaaagtattgagggggc c.*3120
. . . . . . g.17543
aaaaattaccaattatggtatacaaaaataagcctataaatgtgtttcacattgctaact c.*3180
. . . . . . g.17603
tgagtttcagttgattcagtttgtaataactagtaatgagcttctgtttacaataaaaat c.*3240
. . g.17625
tctgtaaattgtttgctgttaa c.*3262
(downstream sequence)
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