(used for variant description)
(last modified November 26, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_006642.3 in the SDCCAG8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_027811.1, covering SDCCAG8 transcript NM_006642.3.
(upstream sequence)
. . . . g.5049
agtgggtgggaagagcccccaagagctctgtgcgggattctaggctccc c.-121
. . . . . . g.5109
ctgtgacagccgcggcaggaagcaggcgggcgctccccggccacaggcctgttgttctcg c.-61
. . . . . . g.5169
gaagggagaaagctggacatttccccacgtaactcccagctctgggcctagagtgcgtgc c.-1
. . . . . . g.5229
ATGGCGAAGTCCCCGGAGAACTCTACCCTGGAGGAGATTCTGGGGCAGTATCAACGGAGT c.60
M A K S P E N S T L E E I L G Q Y Q R S p.20
| 02. . . . . . g.19153
CTCCGGG | AACATGCCAGCAGAAGCATTCACCAACTGACATGTGCCCTGAAAGAAGGCGAT c.120
L R E | H A S R S I H Q L T C A L K E G D p.40
. . . . . . g.19213
GTCACTATTGGAGAAGATGCACCAAATCTTTCTTTTAGCACCAGTGTGGGAAATGAGGAC c.180
V T I G E D A P N L S F S T S V G N E D p.60
. . . . | 03 . . g.19993
GCCAGGACAGCCTGGCCCGAATTACAACAGAGCCATGCTG | TTAATCAGCTCAAAGATTTG c.240
A R T A W P E L Q Q S H A V | N Q L K D L p.80
. . . . . . g.20053
TTGCGCCAACAAGCAGATAAGGAAAGTGAAGTATCTCCGTCAAGAAGAAGAAAAATGTCC c.300
L R Q Q A D K E S E V S P S R R R K M S p.100
| 04 . . . . . . g.23592
CCCTTG | AGGTCATTAGAACATGAGGAAACCAATATGCCTACTATGCACGACCTTGTTCAT c.360
P L | R S L E H E E T N M P T M H D L V H p.120
. . . . . . g.23652
ACTATTAATGACCAGTCTCAATATATTCATCATTTAGAGGCAGAAGTTAAGTTCTGCAAG c.420
T I N D Q S Q Y I H H L E A E V K F C K p.140
| 05 . . . . . . g.35327
| GAGGAACTCTCTGGAATGAAAAATAAAATACAAGTAGTTGTGCTTGAAAACGAAGGGCTC c.480
| E E L S G M K N K I Q V V V L E N E G L p.160
. . . . . . g.35387
CAGCAACAGCTAAAATCTCAAAGACAAGAGGAGACACTGAGGGAACAAACACTTCTGGAT c.540
Q Q Q L K S Q R Q E E T L R E Q T L L D p.180
| 06 . . . . . . g.42140
GCATCC | GGAAACATGCACAATTCTTGGATTACAACAGGTGAAGATTCTGGGGTGGGCGAA c.600
A S | G N M H N S W I T T G E D S G V G E p.200
. . . . . . g.42200
ACCTCCAAAAGACCATTTTCCCATGACAATGCAGATTTTGGCAAAGCTGCATCTGCTGGT c.660
T S K R P F S H D N A D F G K A A S A G p.220
. | 07 . . . . . g.53753
GAGCAGCTAGAACTG | GAGAAGCTAAAACTTACTTATGAGGAAAAGTGTGAAATTGAGGAA c.720
E Q L E L | E K L K L T Y E E K C E I E E p.240
. . | 08 . . . . g.57024
TCCCAATTGAAGTTTTTGAG | GAACGACTTAGCTGAATATCAGAGAACTTGTGAAGATCTT c.780
S Q L K F L R | N D L A E Y Q R T C E D L p.260
. . . . . . g.57084
AAAGAGCAACTAAAGCATAAAGAATTTCTTCTGGCTGCTAATACTTGTAACCGTGTTGGT c.840
K E Q L K H K E F L L A A N T C N R V G p.280
. . . . . . g.57144
GGTCTTTGTTTGAAATGTGCTCAGCATGAAGCTGTTCTTTCCCAAACCCATACTAATGTT c.900
G L C L K C A Q H E A V L S Q T H T N V p.300
. . | 09 . . . g.65781
CATATGCAGACCATCGAAAGACTGGTTAA | AGAAAGAGATGACTTGATGTCTGCACTAGTT c.960
H M Q T I E R L V K | E R D D L M S A L V p.320
. . . . . . g.65841
TCCGTAAGGAGCAGCTTGGCAGATACGCAGCAAAGAGAAGCAAGTGCTTATGAACAGGTG c.1020
S V R S S L A D T Q Q R E A S A Y E Q V p.340
. . . . | 10 . g.79547
AAACAAGTTTTGCAAATATCTGAGGAAGCCAATTTTGAAAAAACCAAG | GCTTTAATCCAG c.1080
K Q V L Q I S E E A N F E K T K | A L I Q p.360
. . . . . . g.79607
TGTGACCAGTTGAGGAAGGAGCTGGAGAGGCAGGCGGAGCGACTTGAAAAAGAACTTGCA c.1140
C D Q L R K E L E R Q A E R L E K E L A p.380
. . . . . . g.79667
TCTCAGCAAGAGAAAAGGGCCATTGAGAAAGACATGATGAAAAAGGAAATAACGAAAGAA c.1200
S Q Q E K R A I E K D M M K K E I T K E p.400
. . | 11 . . . . g.90073
AGGGAGTACATGGGATCAAAG | ATGTTGATCTTGTCTCAGAATATTGCCCAACTGGAGGCC c.1260
R E Y M G S K | M L I L S Q N I A Q L E A p.420
. . . . . . g.90133
CAGGTGGAAAAGGTTACAAAGGAAAAGATTTCAGCTATTAATCAACTGGAGGAAATTCAA c.1320
Q V E K V T K E K I S A I N Q L E E I Q p.440
. . . | 12 . . . g.93234
AGCCAGCTGGCTTCTCGGGAAATGGATGTCACAAAG | GTGTGTGGAGAAATGCGCTATCAG c.1380
S Q L A S R E M D V T K | V C G E M R Y Q p.460
. . . . . . g.93294
CTGAATAAAACCAACATGGAGAAGGATGAGGCAGAAAAGGAGCACAGAGAGTTCAGAGCA c.1440
L N K T N M E K D E A E K E H R E F R A p.480
. . . | 13 . . . g.127743
AAAACTAACAGGGATCTTGAAATTAAAGATCAG | GAAATAGAGAAATTGAGAATAGAACTG c.1500
K T N R D L E I K D Q | E I E K L R I E L p.500
. . . . . . g.127803
GATGAAAGCAAACAACACTTGGAACAGGAGCAGCAGAAGGCAGCCCTGGCCAGAGAGGAG c.1560
D E S K Q H L E Q E Q Q K A A L A R E E p.520
. . . . . | 14 . g.164701
TGCCTGAGACTAACAGAACTGCTGGGCGAATCTGAGCACCAACTGCACCTCACCAG | ACAG c.1620
C L R L T E L L G E S E H Q L H L T R | Q p.540
. . . . . . g.164761
GAAAAAGATAGCATTCAGCAGAGCTTTAGCAAGGAAGCAAAGGCCCAAGCCCTTCAGGCC c.1680
E K D S I Q Q S F S K E A K A Q A L Q A p.560
. . . . . . g.164821
CAGCAAAGAGAGCAGGAGCTGACACAGAAGATACAGCAAATGGAGGCCCAGCATGACAAA c.1740
Q Q R E Q E L T Q K I Q Q M E A Q H D K p.580
| 15 . . . . . . g.167019
ACTG | AAAATGAACAGTATTTGTTGCTGACCTCCCAGAATACATTTTTGACAAAGTTAAAG c.1800
T E | N E Q Y L L L T S Q N T F L T K L K p.600
. . . . . | 16 . g.175429
GAAGAATGCTGTACATTAGCCAAGAAACTGGAACAAATCTCTCAAAAAACCAG | ATCTGAA c.1860
E E C C T L A K K L E Q I S Q K T R | S E p.620
. . . . . . g.175489
ATAGCTCAACTCAGTCAAGAAAAAAGGTATACATATGATAAATTGGGAAAGTTACAGAGA c.1920
I A Q L S Q E K R Y T Y D K L G K L Q R p.640
. . . . . . g.175549
AGAAATGAAGAATTGGAGGAACAGTGTGTCCAGCATGGGAGAGTACATGAGACGATGAAG c.1980
R N E E L E E Q C V Q H G R V H E T M K p.660
| 17 . . . . . . g.238064
CAAAG | GCTAAGGCAGCTGGATAAGCACAGCCAGGCCACAGCCCAGCAGCTGGTGCAGCTC c.2040
Q R | L R Q L D K H S Q A T A Q Q L V Q L p.680
. . . . . . g.238124
CTCAGCAAGCAGAACCAGCTTCTCCTGGAGAGGCAGAGCCTGTCGGAAGAGGTGGACCGG c.2100
L S K Q N Q L L L E R Q S L S E E V D R p.700
. | 18 . . . g.248799
CTGCGGACCCAG | TTACCCAGCATGCCACAATCTGATTGCTGA c.2142
L R T Q | L P S M P Q S D C X p.713
. . . . . . g.248859
cctggatggaacagagtgaaataaatgatttacaaagagatatttacattcatctggttt c.*60
. . . . . . g.248919
agacttaatatgccacaacgcaccacgaccttcccagggtgacaccgcctcagcctgcag c.*120
. . . . . . g.248979
tggggctggtcctcatcaacgcgggcgctgtccccgcacgcagtcgggctggagctggag c.*180
. . . . . . g.249039
tctgactctagctgagcagagctcctggtgtatgttttcagaaatggcttgaagttatgt c.*240
. . . . . . g.249099
gtttaaatctgctcattcgtatgctaggttatacatatgattttcaataaatgaactttt c.*300
g.249105
taaaga c.*306
(downstream sequence)
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