(used for variant description)
(last modified October 14, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_002439.4 in the MSH3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016607.1, covering MSH3 transcript NM_002439.4.
(upstream sequence)
. . g.5193
ccgcagacgcctgggaactg c.-61
. . . . . . g.5253
cggccgcgggctcgcgctcctcgccaggccctgccgccgggctgccatccttgccctgcc c.-1
. . . . . . g.5313
ATGTCTCGCCGGAAGCCTGCGTCGGGCGGCCTCGCTGCCTCCAGCTCAGCCCCTGCGAGG c.60
M S R R K P A S G G L A A S S S A P A R p.20
. . . . . . g.5373
CAAGCGGTTTTGAGCCGATTCTTCCAGTCTACGGGAAGCCTGAAATCCACCTCCTCCTCC c.120
Q A V L S R F F Q S T G S L K S T S S S p.40
. . . . . . g.5433
ACAGGTGCAGCCGACCAGGTGGACCCTGGCGCTGCAGCGGCTGCAGCGGCCGCAGCGGCC c.180
T G A A D Q V D P G A A A A A A A A A A p.60
. . . . . | 02. g.6939
GCAGCGCCCCCAGCGCCCCCAGCTCCCGCCTTCCCGCCCCAGCTGCCGCCGCACATA | GCT c.240
A A P P A P P A P A F P P Q L P P H I | A p.80
. . . . . . g.6999
ACAGAAATTGACAGAAGAAAGAAGAGACCATTGGAAAATGATGGGCCTGTTAAAAAGAAA c.300
T E I D R R K K R P L E N D G P V K K K p.100
. . . . . | 03 g.15670
GTAAAGAAAGTCCAACAAAAGGAAGGAGGAAGTGATCTGGGAATGTCTGGCAACTCTG | AG c.360
V K K V Q Q K E G G S D L G M S G N S E | p.120
. . . . . . g.15730
CCAAAGAAATGTCTGAGGACCAGGAATGTTTCAAAGTCTCTGGAAAAATTGAAAGAATTC c.420
P K K C L R T R N V S K S L E K L K E F p.140
. . . . . . g.15790
TGCTGCGATTCTGCCCTTCCTCAAAGTAGAGTCCAGACAGAATCTCTGCAGGAGAGATTT c.480
C C D S A L P Q S R V Q T E S L Q E R F p.160
. . . . . . g.15850
GCAGTTCTGCCAAAATGTACTGATTTTGATGATATCAGTCTTCTACACGCAAAGAATGCA c.540
A V L P K C T D F D D I S L L H A K N A p.180
. . . | 04 . . g.20643
GTTTCTTCTGAAGATTCGAAACGTCAAATTAATCAAAAG | GACACAACACTTTTTGATCTC c.600
V S S E D S K R Q I N Q K | D T T L F D L p.200
. . . . . . g.20703
AGTCAGTTTGGATCATCAAATACAAGTCATGAAAATTTACAGAAAACTGCTTCCAAATCA c.660
S Q F G S S N T S H E N L Q K T A S K S p.220
. . . . . . g.20763
GCTAACAAACGGTCCAAAAGCATCTATACGCCGCTAGAATTACAATACATAGAAATGAAG c.720
A N K R S K S I Y T P L E L Q Y I E M K p.240
. . . . . . g.20823
CAGCAGCACAAAGATGCAGTTTTGTGTGTGGAATGTGGATATAAGTATAGATTCTTTGGG c.780
Q Q H K D A V L C V E C G Y K Y R F F G p.260
. | 05 . . . . . g.22817
GAAGATGCAGAG | ATTGCAGCCCGAGAGCTCAATATTTATTGCCATTTAGATCACAACTTT c.840
E D A E | I A A R E L N I Y C H L D H N F p.280
. . . . . . g.22877
ATGACAGCAAGTATACCTACTCACAGACTGTTTGTTCATGTACGCCGCCTGGTGGCAAAA c.900
M T A S I P T H R L F V H V R R L V A K p.300
| 06 . . . . . g.23317
GGATATAAG | GTGGGAGTTGTGAAGCAAACTGAAACTGCAGCATTAAAGGCCATTGGAGAC c.960
G Y K | V G V V K Q T E T A A L K A I G D p.320
. . . . . . g.23377
AACAGAAGTTCACTCTTTTCCCGGAAATTGACTGCCCTTTATACAAAATCTACACTTATT c.1020
N R S S L F S R K L T A L Y T K S T L I p.340
| 07. . . . . . g.25561
GGAGAAG | ATGTGAATCCCCTAATCAAGCTGGATGATGCTGTAAATGTTGATGAGATAATG c.1080
G E D | V N P L I K L D D A V N V D E I M p.360
. . . . . . g.25621
ACTGATACTTCTACCAGCTATCTTCTGTGCATCTCTGAAAATAAGGAAAATGTTAGGGAC c.1140
T D T S T S Y L L C I S E N K E N V R D p.380
. . . | 08 . . . g.29479
AAAAAAAAGGGCAACATTTTTATTGGCATTGTG | GGAGTGCAGCCTGCCACAGGCGAGGTT c.1200
K K K G N I F I G I V | G V Q P A T G E V p.400
. . . . . . g.29539
GTGTTTGATAGTTTCCAGGACTCTGCTTCTCGTTCAGAGCTAGAAACCCGGATGTCAAGC c.1260
V F D S F Q D S A S R S E L E T R M S S p.420
. . . . . . g.29599
CTGCAGCCAGTAGAGCTGCTGCTTCCTTCGGCCTTGTCCGAGCAAACAGAGGCGCTCATC c.1320
L Q P V E L L L P S A L S E Q T E A L I p.440
. . | 09 . . . . g.76018
CACAGAGCCACATCTGTTAG | TGTGCAGGATGACAGAATTCGAGTCGAAAGGATGGATAAC c.1380
H R A T S V S | V Q D D R I R V E R M D N p.460
. . . . . . g.76078
ATTTATTTTGAATACAGCCATGCTTTCCAGGCAGTTACAGAGTTTTATGCAAAAGATACA c.1440
I Y F E Y S H A F Q A V T E F Y A K D T p.480
. | 10 . . . . . g.79423
GTTGACATCAAAG | GTTCTCAAATTATTTCTGGCATTGTTAACTTAGAGAAGCCTGTGATT c.1500
V D I K G | S Q I I S G I V N L E K P V I p.500
. . . . . . g.79483
TGCTCTTTGGCTGCCATCATAAAATACCTCAAAGAATTCAACTTGGAAAAGATGCTCTCC c.1560
C S L A A I I K Y L K E F N L E K M L S p.520
| 11 . . . . . g.92041
AAACCTGA | GAATTTTAAACAGCTATCAAGTAAAATGGAATTTATGACAATTAATGGAACA c.1620
K P E | N F K Q L S S K M E F M T I N G T p.540
. . . | 12 . . . g.95058
ACATTAAGGAATCTGGAAATCCTACAGAATCAG | ACTGATATGAAAACCAAAGGAAGTTTG c.1680
T L R N L E I L Q N Q | T D M K T K G S L p.560
. . . . . . g.95118
CTGTGGGTTTTAGACCACACTAAAACTTCATTTGGGAGACGGAAGTTAAAGAAGTGGGTG c.1740
L W V L D H T K T S F G R R K L K K W V p.580
. . | 13 . . . . g.112108
ACCCAGCCACTCCTTAAATTAAG | GGAAATAAATGCCCGGCTTGATGCTGTATCGGAAGTT c.1800
T Q P L L K L R | E I N A R L D A V S E V p.600
. . . . . . g.112168
CTCCATTCAGAATCTAGTGTGTTTGGTCAGATAGAAAATCATCTACGTAAATTGCCCGAC c.1860
L H S E S S V F G Q I E N H L R K L P D p.620
. . . | 14 . . . g.118482
ATAGAGAGGGGACTCTGTAGCATTTATCACAAAAAA | TGTTCTACCCAAGAGTTCTTCTTG c.1920
I E R G L C S I Y H K K | C S T Q E F F L p.640
. . . . . . g.118542
ATTGTCAAAACTTTATATCACCTAAAGTCAGAATTTCAAGCAATAATACCTGCTGTTAAT c.1980
I V K T L Y H L K S E F Q A I I P A V N p.660
. . . . . . g.118602
TCCCACATTCAGTCAGACTTGCTCCGGACCGTTATTTTAGAAATTCCTGAACTCCTCAGT c.2040
S H I Q S D L L R T V I L E I P E L L S p.680
. . . . | 15 . . g.119376
CCAGTGGAGCATTACTTAAAGATACTCAATGAACAAGCTGCCAA | AGTTGGGGATAAAACT c.2100
P V E H Y L K I L N E Q A A K | V G D K T p.700
. . . . . . g.119436
GAATTATTTAAAGACCTTTCTGACTTCCCTTTAATAAAAAAGAGGAAGGATGAAATTCAA c.2160
E L F K D L S D F P L I K K R K D E I Q p.720
. . . . . . g.119496
GGTGTTATTGACGAGATCCGAATGCATTTGCAAGAAATACGAAAAATACTAAAAAATCCT c.2220
G V I D E I R M H L Q E I R K I L K N P p.740
. . . | 16 . . . g.126246
TCTGCACAATATGTGACAGTATCAGGACAGGAG | TTTATGATAGAAATAAAGAACTCTGCT c.2280
S A Q Y V T V S G Q E | F M I E I K N S A p.760
. . . | 17 . . g.129267
GTATCTTGTATACCAACTGATTGGGTAAAGGTTGGAAG | CACAAAAGCTGTGAGCCGCTTT c.2340
V S C I P T D W V K V G S | T K A V S R F p.780
. . . . . . g.129327
CACTCTCCTTTTATTGTAGAAAATTACAGACATCTGAATCAGCTCCGGGAGCAGCTAGTC c.2400
H S P F I V E N Y R H L N Q L R E Q L V p.800
. . . | 18 . . . g.138115
CTTGACTGCAGTGCTGAATGGCTTGATTTTCTAGA | GAAATTCAGTGAACATTATCACTCC c.2460
L D C S A E W L D F L E | K F S E H Y H S p.820
. . . . . . g.138175
TTGTGTAAAGCAGTGCATCACCTAGCAACTGTTGACTGCATTTTCTCCCTGGCCAAGGTC c.2520
L C K A V H H L A T V D C I F S L A K V p.840
. . | 19 . . . . g.143295
GCTAAGCAAGGAGATTACTGCAG | ACCAACTGTACAAGAAGAAAGAAAAATTGTAATAAAA c.2580
A K Q G D Y C R | P T V Q E E R K I V I K p.860
. . . . . . g.143355
AATGGAAGGCACCCTGTGATTGATGTGTTGCTGGGAGAACAGGATCAATATGTCCCAAAT c.2640
N G R H P V I D V L L G E Q D Q Y V P N p.880
. | 20 . . . . . g.164154
AATACAGATTTATCA | GAGGACTCAGAGAGAGTAATGATAATTACCGGACCAAACATGGGT c.2700
N T D L S | E D S E R V M I I T G P N M G p.900
. . . . . . g.164214
GGAAAGAGCTCCTACATAAAACAAGTTGCATTGATTACCATCATGGCTCAGATTGGCTCC c.2760
G K S S Y I K Q V A L I T I M A Q I G S p.920
. . . . . | 21 . g.204662
TATGTTCCTGCAGAAGAAGCGACAATTGGGATTGTGGATGGCATTTTCACAAG | GATGGGT c.2820
Y V P A E E A T I G I V D G I F T R | M G p.940
. . . . . . g.204722
GCTGCAGACAATATATATAAAGGACAGAGTACATTTATGGAAGAACTGACTGACACAGCA c.2880
A A D N I Y K G Q S T F M E E L T D T A p.960
. . . . . . g.204782
GAAATAATCAGAAAAGCAACATCACAGTCCTTGGTTATCTTGGATGAACTAGGAAGAGGG c.2940
E I I R K A T S Q S L V I L D E L G R G p.980
. . . . . . g.204842
ACGAGCACTCATGATGGAATTGCCATTGCCTATGCTACACTTGAGTATTTCATCAGAGAT c.3000
T S T H D G I A I A Y A T L E Y F I R D p.1000
| 22 . . . . . . g.215398
| GTGAAATCCTTAACCCTGTTTGTCACCCATTATCCGCCAGTTTGTGAACTAGAAAAAAAT c.3060
| V K S L T L F V T H Y P P V C E L E K N p.1020
. . . . . . g.215458
TACTCACACCAGGTGGGGAATTACCACATGGGATTCTTGGTCAGTGAGGATGAAAGCAAA c.3120
Y S H Q V G N Y H M G F L V S E D E S K p.1040
. | 23 . . . . . g.223691
CTGGATCCAG | GCGCAGCAGAACAAGTCCCTGATTTTGTCACCTTCCTTTACCAAATAACT c.3180
L D P G | A A E Q V P D F V T F L Y Q I T p.1060
. . . . . . g.223751
AGAGGAATTGCAGCAAGGAGTTATGGATTAAATGTGGCTAAACTAGCAGATGTTCCTGGA c.3240
R G I A A R S Y G L N V A K L A D V P G p.1080
. . . . . . g.223811
GAAATTTTGAAGAAAGCAGCTCACAAGTCAAAAGAGCTGGAAGGATTAATAAATACGAAA c.3300
E I L K K A A H K S K E L E G L I N T K p.1100
| 24 . . . . . . g.226334
AG | AAAGAGACTCAAGTATTTTGCAAAGTTATGGACGATGCATAATGCACAAGACCTGCAG c.3360
R | K R L K Y F A K L W T M H N A Q D L Q p.1120
. . . . . g.226388
AAGTGGACAGAGGAGTTCAACATGGAAGAAACACAGACTTCTCTTCTTCATTAA c.3414
K W T E E F N M E E T Q T S L L H X p.1137
. . . . . . g.226448
aatgaagactacatttgtgaacaaaaaatggagaattaaaaataccaactgtacaaaata c.*60
. . . . . . g.226508
actctccagtaacagcctatctttgtgtgacatgtgagcataaaattatgaccatggtat c.*120
. . . . . . g.226568
attcctattggaaacagagaggtttttctgaagacagtctttttcaagtttctgtcttcc c.*180
. . . . . . g.226628
taacttttctacgtataaacactcttgaatagacttccactttgtaattagaaaatttta c.*240
. . . . . . g.226688
tggacagtaagtccagtaaagccttaagtggcagaatataattcccaagcttttggaggg c.*300
. . . . . . g.226748
tgatataaaaatttacttgatatttttatttgtttcagttcagataattggcaactgggt c.*360
. . . . . . g.226808
gaatctggcaggaatctatccattgaactaaaataattttattatgcaaccagtttatcc c.*420
. . . . . . g.226868
accaagaacataagaattttttataagtagaaagaattggccaggcatggtggctcatgc c.*480
. . . . . . g.226928
ctgtaatcccagcactttgggaggccaaggtaggcagatcacctgaggtcaggagttcaa c.*540
. . . . . . g.226988
gaccagcctggccaacatggcaaaaccccatctttactaaaaatataaagtacatctcta c.*600
. . . . . . g.227048
ctaaaaatacgaaaaaattagctgggcatggtggcgcacacctgtagtcccagctactcc c.*660
. . . . . . g.227108
ggaggctgaggcaggagaatctcttgaacctgggaggcggaggttgcaatgagccgagat c.*720
. . . . . . g.227168
cacgtcactgcactccagcttgggcaacagagcaagactccatctcaaaaaaaaaaaaag c.*780
. . . . . . g.227228
aaaaaagaaaagaaatagaattatcaagcttttaaaaactagagcacagaaggaataagg c.*840
. . . . . . g.227288
tcatgaaatttaaaaggttaaatattgtcataggattaagcagtttaaagattgttggat c.*900
. . . . . g.227341
gaaattatttgtcattcattcaagtaataaatatttaatgaatacttgctata c.*953
(downstream sequence)
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