(used for mutation description)
(last modified March 9, 2010)
This file was created to facilitate the description of sequence variants in the BAG3 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_016125.1, covering BAG3 transcript NM_004281.3.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
g.5006
gcggag c.-301
. . . . . . g.5066
ctccgcatccaaccccgggccgcggccaacttctctggactggaccagaagtttctagcc c.-241
. . . . . . g.5126
ggccagttgctacctccctttatctcctccttcccctctggcagcgaggaggctatttcc c.-181
. . . . . . g.5186
agacacttccacccctctctggccacgtcacccccgcctttaattcataaaggtgcccgg c.-121
. . . . . . g.5246
cgccggcttcccggacacgtcggcggcggagaggggcccacggcggcggcccggccagag c.-61
. . . . . . g.5306
actcggcgcccggagccagcgccccgcacccgcgccccagcgggcagaccccaacccagc c.-1
. . . . . . g.5366
ATGAGCGCCGCCACCCACTCGCCCATGATGCAGGTGGCGTCCGGCAACGGTGACCGCGAC c.60
M S A A T H S P M M Q V A S G N G D R D p.20
. . . . . . g.5426
CCTTTGCCCCCCGGATGGGAGATCAAGATCGACCCGCAGACCGGCTGGCCCTTCTTCGTG c.120
P L P P G W E I K I D P Q T G W P F F V p.40
. . . . . . g.5486
GACCACAACAGCCGCACCACTACGTGGAACGACCCGCGCGTGCCCTCTGAGGGCCCCAAG c.180
D H N S R T T T W N D P R V P S E G P K p.60
| 02 . . . . . . g.23541
| GAGACTCCATCCTCTGCCAATGGCCCTTCCCGGGAGGGCTCTAGGCTGCCGCCTGCTAGG c.240
| E T P S S A N G P S R E G S R L P P A R p.80
. . . . . . g.23601
GAAGGCCACCCTGTGTACCCCCAGCTCCGACCAGGCTACATTCCCATTCCTGTGCTCCAT c.300
E G H P V Y P Q L R P G Y I P I P V L H p.100
. . . . . . g.23661
GAAGGCGCTGAGAACCGGCAGGTGCACCCTTTCCATGTCTATCCCCAGCCTGGGATGCAG c.360
E G A E N R Q V H P F H V Y P Q P G M Q p.120
. . . . . . g.23721
CGATTCCGAACTGAGGCGGCAGCAGCGGCTCCTCAGAGGTCCCAGTCACCTCTGCGGGGC c.420
R F R T E A A A A A P Q R S Q S P L R G p.140
. . . . . . g.23781
ATGCCAGAAACCACTCAGCCAGATAAACAGTGTGGACAGGTGGCAGCGGCGGCGGCAGCC c.480
M P E T T Q P D K Q C G Q V A A A A A A p.160
. . | 03. . . . g.25918
CAGCCCCCAGCCTCCCACGGACCTGAG | CGGTCCCAGTCTCCAGCTGCCTCTGACTGCTCA c.540
Q P P A S H G P E | R S Q S P A A S D C S p.180
. . . . . . g.25978
TCCTCATCCTCCTCGGCCAGCCTGCCTTCCTCCGGCAGGAGCAGCCTGGGCAGTCACCAG c.600
S S S S S A S L P S S G R S S L G S H Q p.200
. . . . . . g.26038
CTCCCGCGGGGGTACATCTCCATTCCGGTGATACACGAGCAGAACGTTACCCGGCCAGCA c.660
L P R G Y I S I P V I H E Q N V T R P A p.220
. . . . . . g.26098
GCCCAGCCCTCCTTCCACCAAGCCCAGAAGACGCACTACCCAGCGCAGCAGGGGGAGTAC c.720
A Q P S F H Q A Q K T H Y P A Q Q G E Y p.240
. . . . . . g.26158
CAGACCCACCAGCCTGTGTACCACAAGATCCAGGGGGATGACTGGGAGCCCCGGCCCCTG c.780
Q T H Q P V Y H K I Q G D D W E P R P L p.260
. . . . . . g.26218
CGGGCGGCATCCCCGTTCAGGTCATCTGTCCAGGGTGCATCGAGCCGGGAGGGCTCACCA c.840
R A A S P F R S S V Q G A S S R E G S P p.280
. . . . . . g.26278
GCCAGGAGCAGCACGCCACTCCACTCCCCCTCGCCCATCCGTGTGCACACCGTGGTCGAC c.900
A R S S T P L H S P S P I R V H T V V D p.300
| 04 . . . . . g.30145
AGGCCTCAG | CAGCCCATGACCCATCGAGAAACTGCACCTGTTTCCCAGCCTGAAAACAAA c.960
R P Q | Q P M T H R E T A P V S Q P E N K p.320
. . . . . . g.30205
CCAGAAAGTAAGCCAGGCCCAGTTGGACCAGAACTCCCTCCTGGACACATCCCAATTCAA c.1020
P E S K P G P V G P E L P P G H I P I Q p.340
. . . . . . g.30265
GTGATCCGCAAAGAGGTGGATTCTAAACCTGTTTCCCAGAAGCCCCCACCTCCCTCTGAG c.1080
V I R K E V D S K P V S Q K P P P P S E p.360
. . . . . . g.30325
AAGGTAGAGGTGAAAGTTCCCCCTGCTCCAGTTCCTTGTCCTCCTCCCAGCCCTGGCCCT c.1140
K V E V K V P P A P V P C P P P S P G P p.380
. . . . . . g.30385
TCTGCTGTCCCCTCTTCCCCCAAGAGTGTGGCTACAGAAGAGAGGGCAGCCCCCAGCACT c.1200
S A V P S S P K S V A T E E R A A P S T p.400
. . . . . . g.30445
GCCCCTGCAGAAGCTACACCTCCAAAACCAGGAGAAGCCGAGGCTCCCCCAAAACATCCA c.1260
A P A E A T P P K P G E A E A P P K H P p.420
. . . . . . g.30505
GGAGTGCTGAAAGTGGAAGCCATCCTGGAGAAGGTACAGGGGCTGGAGCAGGCTGTAGAC c.1320
G V L K V E A I L E K V Q G L E Q A V D p.440
. . . . . . g.30565
AACTTTGAAGGCAAGAAGACTGACAAAAAGTACCTGATGATCGAAGAGTATTTGACCAAA c.1380
N F E G K K T D K K Y L M I E E Y L T K p.460
. . . . . . g.30625
GAGCTGCTGGCCCTGGATTCAGTGGACCCCGAGGGACGAGCCGATGTGCGTCAGGCCAGG c.1440
E L L A L D S V D P E G R A D V R Q A R p.480
. . . . . . g.30685
AGAGACGGTGTCAGGAAGGTTCAGACCATCTTGGAAAAACTTGAACAGAAAGCCATTGAT c.1500
R D G V R K V Q T I L E K L E Q K A I D p.500
. . . . . . g.30745
GTCCCAGGTCAAGTCCAGGTCTATGAACTCCAGCCCAGCAACCTTGAAGCAGATCAGCCA c.1560
V P G Q V Q V Y E L Q P S N L E A D Q P p.520
. . . . . . g.30805
CTGCAGGCAATCATGGAGATGGGTGCCGTGGCAGCAGACAAGGGCAAGAAAAATGCTGGA c.1620
L Q A I M E M G A V A A D K G K K N A G p.540
. . . . . . g.30865
AATGCAGAAGATCCCCACACAGAAACCCAGCAGCCAGAAGCCACAGCAGCAGCGACTTCA c.1680
N A E D P H T E T Q Q P E A T A A A T S p.560
. . . . g.30913
AACCCCAGCAGCATGACAGACACCCCTGGTAACCCAGCAGCACCGTAG c.1728
N P S S M T D T P G N P A A P X p.575
. . . . . . g.30973
cctctgccctgtaaaaatcagactcggaaccgatgtgtgctttagggaattttaagttgc c.*60
. . . . . . g.31033
atgcatttcagagactttaagtcagttggtttttattagctgcttggtatgcagtaactt c.*120
. . . . . . g.31093
gggtggaggcaaaacactaataaaagggctaaaaaggaaaatgatgcttttcttctatat c.*180
. . . . . . g.31153
tcttactctgtacaaataaagaagttgcttgttgtttgagaagtttaaccccgttgcttg c.*240
. . . . . . g.31213
ttgttctgcagccctgtctacttgggcacccccaccacctgttagctgtggttgtgcact c.*300
. . . . . . g.31273
gtcttttgtagctctggactggaggggtagatggggagtcaattacccatcacataaata c.*360
. . . . . . g.31333
tgaaacatttatcagaaatgttgccattttaatgagatgattttcttcatctcataatta c.*420
. . . . . . g.31393
aaatacctgactttagagagagtaaaatgtgccaggagccataggaatatctgtatgttg c.*480
. . . . . g.31450
gatgactttaatgctacattttaaaaaaagaaaataaagtaataatataactcaaaa c.*537
(downstream sequence)
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