(used for variant description)
(last modified February 25, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_015705.4 in the SGSM3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000022.10, covering SGSM3 transcript NM_015705.4.
(upstream sequence)
. . g.5029
gccacgcgtgcgcttaggcgccgctgagc c.-181
. . . . . . g.5089
gctgactgggtgcgagtggggaagctgctaacccgacccggattggcgctgaggtggccc c.-121
. | 02 . . . . g.35156
gtggggcag | ggcagatgattctggaccagatgaagcctgaggagccttccagctctaaga c.-61
. . . . . . g.35216
tagcaggataggagacttctaagattggagctgcagaagacttgccagcccaccagcaca c.-1
| 03. . . . . . g.36055
ATGTCAG | GAAGCCATACACCTGCCTGTGGCCCTTTCTCAGCCCTGACTCCGAGCATATGG c.60
M S G | S H T P A C G P F S A L T P S I W p.20
. . . | 04 . . . g.36578
CCCCAGGAGATCTTGGCCAAGTACACGCAG | AAGGAAGAGTCAGCAGAGCAACCAGAGTTC c.120
P Q E I L A K Y T Q | K E E S A E Q P E F p.40
. . . | 05. . . g.38679
TACTACGATGAGTTTGGTTTCCGTGTGTACAAGGAAG | AAGGTGATGAGCCTGGCTCCAGT c.180
Y Y D E F G F R V Y K E E | G D E P G S S p.60
. . . . . . g.38739
CTGCTGGCGAACTCCCCTCTGATGGAGGATGCTCCACAGAGGCTGCGGTGGCAGGCCCAC c.240
L L A N S P L M E D A P Q R L R W Q A H p.80
. . . . . . g.38799
CTGGAGTTCACCCATAACCACGATGTGGGGGATCTCACCTGGGACAAGATTGCCGTCTCC c.300
L E F T H N H D V G D L T W D K I A V S p.100
. . . . . . g.38859
CTACCCCGCTCTGAGAAGCTCCGCTCCCTGGTGCTGGCCGGCATCCCACATGGCATGAGG c.360
L P R S E K L R S L V L A G I P H G M R p.120
| 06 . . . . . . g.39020
CCACAG | CTGTGGATGCGGCTCTCTGGGGCCCTGCAGAAGAAGAGGAACTCTGAGCTGTCC c.420
P Q | L W M R L S G A L Q K K R N S E L S p.140
. . . . . | 07 . g.39556
TACCGCGAGATTGTGAAGAACAGCTCCAACGATGAGACCATCGCTGCCAAGCAG | ATCGAG c.480
Y R E I V K N S S N D E T I A A K Q | I E p.160
. . . . . . g.39616
AAGGACCTGCTCCGCACCATGCCCAGCAACGCCTGCTTCGCCAGCATGGGTAGCATCGGG c.540
K D L L R T M P S N A C F A S M G S I G p.180
. . . . . . g.39676
GTGCCCCGCCTGCGCAGGGTGCTCCGGGCCCTGGCCTGGCTCTACCCAGAGATCGGCTAC c.600
V P R L R R V L R A L A W L Y P E I G Y p.200
. | 08 . . . . g.40100
TGCCAGGGCACCGGCATG | GTGGCCGCCTGCCTCCTGCTGTTCCTGGAGGAGGAGGACGCC c.660
C Q G T G M | V A A C L L L F L E E E D A p.220
. . . . . . g.40160
TTCTGGATGATGTCTGCCATCATCGAGGACCTGCTCCCCGCCTCCTACTTCAGCACCACC c.720
F W M M S A I I E D L L P A S Y F S T T p.240
. . . . . . g.40220
CTGCTGGGTGTCCAGACTGACCAGCGGGTCCTGCGCCACCTCATTGTCCAGTACCTGCCT c.780
L L G V Q T D Q R V L R H L I V Q Y L P p.260
. . . | 09 . . . g.40513
CGCCTGGACAAGCTGCTCCAGGAGCATGACATTG | AGCTGTCCCTGATCACACTGCACTGG c.840
R L D K L L Q E H D I E | L S L I T L H W p.280
. . . . . . g.40573
TTCCTCACGGCCTTCGCCAGCGTGGTGGACATCAAGCTGCTCCTGCGCATCTGGGACCTG c.900
F L T A F A S V V D I K L L L R I W D L p.300
. . . . . . g.40633
TTTTTCTACGAGGGCTCCCGGGTGCTGTTCCAGCTCACGCTGGGCATGCTGCACCTCAAG c.960
F F Y E G S R V L F Q L T L G M L H L K p.320
| 10 . . . . . . g.40907
| GAGGAAGAGCTGATCCAGTCAGAGAACTCGGCCTCCATCTTCAACACGCTATCGGATATC c.1020
| E E E L I Q S E N S A S I F N T L S D I p.340
. . . . . . g.40967
CCGTCGCAGATGGAGGACGCGGAGCTGCTTCTGGGGGTGGCCATGCGGCTGGCCGGCTCC c.1080
P S Q M E D A E L L L G V A M R L A G S p.360
. . . . . . g.41027
CTCACCGATGTGGCCGTGGAGACTCAGCGCCGCAAGCACCTGGCCTATCTCATTGCAGAC c.1140
L T D V A V E T Q R R K H L A Y L I A D p.380
. . . . | 11 . . g.41441
CAGGGCCAGCTCCTGGGGGCCGGCACCCTCACCAACCTCTCTCAG | GTTGTTCGCCGCAGG c.1200
Q G Q L L G A G T L T N L S Q | V V R R R p.400
. . . . | 12 . . g.41630
ACCCAGCGGAGGAAGTCCACCATCACTGCTCTGCTCTTCG | GGGAGGATGACCTGGAGGCA c.1260
T Q R R K S T I T A L L F G | E D D L E A p.420
. . . . . . g.41690
CTCAAGGCCAAGAACATCAAGCAGACGGAACTGGTGGCTGACCTCCGGGAAGCCATCCTG c.1320
L K A K N I K Q T E L V A D L R E A I L p.440
. . . . | 13 . g.41834
CGCGTGGCACGCCACTTCCAGTGCACAGACCCCAAAAACTGCAGCGTG | GAGCTGACTCCA c.1380
R V A R H F Q C T D P K N C S V | E L T P p.460
. . . . . . g.41894
GACTATAGCATGGAGAGCCACCAGCGGGACCACGAGAACTACGTGGCGTGCTCACGCAGC c.1440
D Y S M E S H Q R D H E N Y V A C S R S p.480
. . . . . . g.41954
CACCGGCGCCGAGCCAAGGCCCTGCTGGACTTTGAGCGGCACGACGACGACGAGCTGGGC c.1500
H R R R A K A L L D F E R H D D D E L G p.500
. . | 14 . . . . g.42234
TTCCGCAAGAACGACATCATCACA | ATCGTGTCTCAGAAGGACGAGCACTGCTGGGTGGGG c.1560
F R K N D I I T | I V S Q K D E H C W V G p.520
. | 15 . . . . g.42521
GAGCTCAACGGCCTGCGAG | GCTGGTTTCCAGCCAAGTTCGTGGAAGTCCTGGATGAGCGC c.1620
E L N G L R G | W F P A K F V E V L D E R p.540
| 16 . . . . . g.42737
AGCAAAGAG | TACTCCATCGCGGGGGATGACTCGGTGACGGAGGGGGTCACAGACCTCGTG c.1680
S K E | Y S I A G D D S V T E G V T D L V p.560
. . . . . . g.42797
CGAGGGACCCTCTGCCCGGCCCTTAAGGCCCTGTTCGAACATGGACTGAAGAAGCCATCC c.1740
R G T L C P A L K A L F E H G L K K P S p.580
. . . . | 17 . . g.43054
CTGCTTGGGGGCGCCTGCCACCCCTGGCTGTTTATCGAGGAG | GCTGCAGGCCGGGAGGTC c.1800
L L G G A C H P W L F I E E | A A G R E V p.600
. . . . . | 18 . g.43210
GAGAGAGACTTTGCCTCCGTGTATTCCCGTCTGGTGCTCTGTAAGACCTTCAG | GTTGGAT c.1860
E R D F A S V Y S R L V L C K T F R | L D p.620
. . . . | 19 . . g.43360
GAAGATGGCAAAGTCCTGACCCCGGAGGAGCTGCTCTACCGG | GCTGTGCAGTCTGTGAAC c.1920
E D G K V L T P E E L L Y R | A V Q S V N p.640
. . . . . . g.43420
GTGACCCACGATGCAGTGCATGCACAAATGGATGTGAAGCTCCGCTCACTGATCTGCGTG c.1980
V T H D A V H A Q M D V K L R S L I C V p.660
| 20 . . . . . g.43711
GGGCTCAA | TGAGCAGGTGCTGCACCTGTGGCTGGAGGTGCTCTGCTCCAGCCTGCCCACC c.2040
G L N | E Q V L H L W L E V L C S S L P T p.680
. . . . . . g.43771
GTGGAGAAGTGGTACCAGCCCTGGTCCTTCCTGCGCAGCCCGGGCTGGGTCCAGATCAAG c.2100
V E K W Y Q P W S F L R S P G W V Q I K p.700
. | 21 . . . . . g.43923
TGTGAGCTCCG | AGTCCTCTGCTGCTTTGCCTTCAGCCTCTCCCAGGACTGGGAGCTCCCT c.2160
C E L R | V L C C F A F S L S Q D W E L P p.720
. | 22 . . . . . g.44139
GCGAAGAGAGAG | GCGCAGCAGCCCCTGAAGGAGGGCGTCCGGGACATGCTGGTGAAGCAC c.2220
A K R E | A Q Q P L K E G V R D M L V K H p.740
. . . g.44169
CACCTCTTCAGCTGGGATGTGGACGGGTGA c.2250
H L F S W D V D G X p.749
. . . . . . g.44229
ccccctcctccccagcccaacctcgggcctgcgtctgaggtggcccaggaccccaagctg c.*60
. . . . . . g.44289
cagagcccagggaagagcagctccagagccctggccggggccgcgggatatcaatatcag c.*120
. . . . . . g.44349
gctgccccactccacgttccccagcacatcccaggtggtgggagcagagggtaccctgcc c.*180
. . . . . . g.44409
ccaccagggtccttagggatgctctaggccaaaccacagtttgtaccaaaaaccttgtga c.*240
. . . . . . g.44469
ggaggtgggggagccatgtctgtgctcaggaagagggaaggggatgggggtggctagtag c.*300
. . . . . . g.44529
gctcctggcctctttggtttataaataaactgtgtctgtctttgagaaagcacctacctg c.*360
. . . . . . g.44589
tcttctgtgcagctagggctgcagagctgtattcaggtccaaggttctgcccttccttga c.*420
. . . . . . g.44649
gtggtctagaaggcactgcgtggcccctcagatgctgggacacaacagacccgggaccca c.*480
. . . . . g.44699
gctgtgctacccaccccttccatggactgaataagatggactaacaggcc c.*530
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 29
©2004-2024 Leiden University Medical Center