(used for variant description)
(last modified July 4, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_003025.3 in the SH3GL1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028084.1, covering SH3GL1 transcript NM_003025.3.
(upstream sequence)
. . g.5020
ggaagcgtgcggttgccatg c.-181
. . . . . . g.5080
taatatcctggccgcgcgggcgcgcgagcggctgaggcggcgccggggcgggcgcggagc c.-121
. . . . . . g.5140
tggcaagcgggtggcggaggcggcgccgacggggactgctgaggcgcgcagagggtcggc c.-61
. . . . . . g.5200
ggcgcccgggagcctgtcgctggcgcggtccgggcgggaggctcggcggcgggcggcagc c.-1
. . . . | 02 . . g.38589
ATGTCGGTGGCGGGGCTGAAGAAGCAGTTCTACAAGGCGAGCCAG | CTGGTCAGTGAGAAG c.60
M S V A G L K K Q F Y K A S Q | L V S E K p.20
. . . . . | 03 . g.39001
GTCGGAGGGGCCGAGGGGACCAAGCTGGATGATGACTTCAAAGAGATGGAGAAG | AAGGTG c.120
V G G A E G T K L D D D F K E M E K | K V p.40
. . . . . . g.39061
GATGTCACCAGCAAGGCGGTGACAGAAGTGCTGGCCAGGACCATCGAGTACCTGCAGCCC c.180
D V T S K A V T E V L A R T I E Y L Q P p.60
| 04. . . . . . g.39996
AACCCAG | CCTCGCGGGCTAAGCTGACCATGCTCAACACGGTGTCCAAGATCCGGGGCCAG c.240
N P A | S R A K L T M L N T V S K I R G Q p.80
. . . . . . g.40056
GTGAAGAACCCCGGCTACCCGCAGTCGGAGGGGCTTCTGGGCGAGTGCATGATCCGCCAC c.300
V K N P G Y P Q S E G L L G E C M I R H p.100
. . . | 05 . . . g.41376
GGGAAGGAGCTGGGCGGCGAGTCCAACTTTG | GTGACGCATTGCTGGATGCCGGCGAGTCC c.360
G K E L G G E S N F G | D A L L D A G E S p.120
. . . . . . g.41436
ATGAAGCGCCTGGCAGAGGTGAAGGACTCCCTGGACATCGAGGTCAAGCAGAACTTCATT c.420
M K R L A E V K D S L D I E V K Q N F I p.140
. . . . | 06 . . g.41705
GACCCCCTCCAGAACCTGTGCGAGAAAGACCTGAAGGAGATCCAG | CACCACCTGAAGAAA c.480
D P L Q N L C E K D L K E I Q | H H L K K p.160
. . . . . . g.41765
CTGGAGGGCCGCCGCCTGGACTTTGACTACAAGAAGAAGCGGCAGGGCAAGATCCCCGAT c.540
L E G R R L D F D Y K K K R Q G K I P D p.180
. . . . . . g.41825
GAGGAGCTACGCCAGGCGCTGGAGAAGTTCGAGGAGTCCAAGGAGGTGGCAGAAACCAGC c.600
E E L R Q A L E K F E E S K E V A E T S p.200
. . | 07 . . . . g.42131
ATGCACAACCTCCTGGAGACTGAC | ATCGAGCAGGTGAGTCAGCTCTCGGCCCTGGTGGAT c.660
M H N L L E T D | I E Q V S Q L S A L V D p.220
. . . . . . g.42191
GCACAGCTGGACTACCACCGGCAGGCCGTGCAGATCCTGGACGAGCTGGCGGAGAAGCTC c.720
A Q L D Y H R Q A V Q I L D E L A E K L p.240
| 08 . . . . . g.42884
AAGCGCAG | GATGCGGGAAGCTTCCTCACGCCCTAAGCGGGAGTATAAGCCCAAGCCCCGG c.780
K R R | M R E A S S R P K R E Y K P K P R p.260
. . . . . . g.42944
GAGCCCTTTGACCTTGGAGAGCCTGAGCAGTCCAACGGGGGCTTCCCCTGCACCACAGCC c.840
E P F D L G E P E Q S N G G F P C T T A p.280
. | 09 . . . . . g.43230
CCCAAGATCGCAG | CTTCATCGTCTTTCCGATCTTCCGACAAGCCCATCCGGACCCCTAGC c.900
P K I A A | S S S F R S S D K P I R T P S p.300
. | 10 . . . . . g.43822
CGGAGCATGC | CGCCCCTGGACCAGCCGAGCTGCAAGGCGCTGTACGACTTCGAGCCCGAG c.960
R S M P | P L D Q P S C K A L Y D F E P E p.320
. . . . . . g.43882
AACGACGGGGAGCTGGGCTTCCATGAGGGCGACGTCATCACGCTGACCAACCAGATCGAT c.1020
N D G E L G F H E G D V I T L T N Q I D p.340
. . . . . . g.43942
GAGAACTGGTACGAGGGCATGCTGGACGGCCAGTCGGGCTTCTTCCCGCTCAGCTACGTG c.1080
E N W Y E G M L D G Q S G F F P L S Y V p.360
. . g.43969
GAGGTGCTTGTGCCCCTGCCGCAGTGA c.1107
E V L V P L P Q X p.368
. . . . . . g.44029
ctcacccgtgtccccgccccgcccctccgtccacactggccggcaccccctgctgggtct c.*60
. . . . . . g.44089
cctgcattccacggagcccctgctgccagggcggtgtctgagcctgccggcgccacctgg c.*120
. . . . . . g.44149
gccccggcccttgaggtactccctgagcaggaccccacacttgggtgggggggcttatct c.*180
. . . . . . g.44209
gggtgggtggggatgcctgtttacactagcgctgactcccaacggtgacggctcccttcc c.*240
. . . . . . g.44269
ccactccatggcgccagcctcctcccccgctccccaacttctcgcccagctggccgaggc c.*300
. . . . . . g.44329
ggggcaacactaaggtgctcttagaaacactaatgttcctctggggcagcccccacctcc c.*360
. . . . . . g.44389
gtcctgacccgacgggggcccggcccactgcctaccctcgagtcccgcagccttaacagg c.*420
. . . . . . g.44449
atgggatcgagggtccccatggggtggctcagagataggaccctggttttaaatccctcc c.*480
. . . . . . g.44509
cagcctggtgctggtgatgggccctggccctactccagggccaatgcacccccgcctcac c.*540
. . . . . . g.44569
acacgcactccttctcctcaaggccagggcagagggcctcaccgcctcccgggcctgctg c.*600
. . . . . . g.44629
tcagcttgcagcccggggacagaggccagctgggatctgcctgaggacagagaacatggt c.*660
. . . . . . g.44689
ctcctgcagggccctgcctcccaagccccgccctcagaaagccaagtaccttttcagctt c.*720
. . . . . . g.44749
tttaactgcccccatcccaacccagggaggcctgtgtcactctggcacaagctgccacca c.*780
. . . . . . g.44809
ccagccacccacacccaccccagcacacctcacacgggaccacagccgcgctgccgaggg c.*840
. . . . . . g.44869
ccaagcacaaaggttccagtgagcgcatgtcccagcccctggtggccaggctccccttgc c.*900
. . . . . . g.44929
tgagccgctgccacttcaccctgtgggaagtggccccagccatctcctctagaccaaggc c.*960
. . . . . . g.44989
aggcagccccgacatctgcttcctctatcgcccaatgcaaaatcgatgaaatggggagtt c.*1020
. . . . . . g.45049
ctctgggccaggccacattcacattcccctccccctgtggtccagtgaagcctccggacc c.*1080
. . . . . . g.45109
ccaggctctgctctgccctgccctgcacccccctcgtcagaagtacatgaggggcgcaga c.*1140
. . . . . . g.45169
gatgagcacacagctttgggcacggtccagggcaaactgaaatgtacgcctgaattttgt c.*1200
. . . g.45202
aaacagaagtattaaatgtctctttctacagcc c.*1233
(downstream sequence)
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