(used for variant description)
(last modified August 22, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000249.3 in the MLH1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007109.2, covering MLH1 transcript NM_000249.3.
(upstream sequence)
. g.5018
gaagagacccagcaaccc c.-181
. . . . . . g.5078
acagagttgagaaatttgactggcattcaagctgtccaatcaatagctgccgctgaaggg c.-121
. . . . . . g.5138
tggggctggatggcgtaagctacagctgaaggaagaacgtgagcacgaggcactgaggtg c.-61
. . . . . . g.5198
attggctgaaggcacttccgttgagcatctagacgtttccttggctcttctggcgccaaa c.-1
. . . . . . g.5258
ATGTCGTTCGTGGCAGGGGTTATTCGGCGGCTGGACGAGACAGTGGTGAACCGCATCGCG c.60
M S F V A G V I R R L D E T V V N R I A p.20
. . . . . | 02 . g.8273
GCGGGGGAAGTTATCCAGCGGCCAGCTAATGCTATCAAAGAGATGATTGAGAACTG | TTTA c.120
A G E V I Q R P A N A I K E M I E N C | L p.40
. . . . . . g.8333
GATGCAAAATCCACAAGTATTCAAGTGATTGTTAAAGAGGGAGGCCTGAAGTTGATTCAG c.180
D A K S T S I Q V I V K E G G L K L I Q p.60
. . | 03. . . . g.12638
ATCCAAGACAATGGCACCGGGATCAGG | AAAGAAGATCTGGATATTGTATGTGAAAGGTTC c.240
I Q D N G T G I R | K E D L D I V C E R F p.80
. . . . . . g.12698
ACTACTAGTAAACTGCAGTCCTTTGAGGATTTAGCCAGTATTTCTACCTATGGCTTTCGA c.300
T T S K L Q S F E D L A S I S T Y G F R p.100
| 04 . . . . . . g.16105
GGTGAG | GCTTTGGCCAGCATAAGCCATGTGGCTCATGTTACTATTACAACGAAAACAGCT c.360
G E | A L A S I S H V A H V T I T T K T A p.120
. . | 05 . . . . g.18681
GATGGAAAGTGTGCATACAG | AGCAAGTTACTCAGATGGAAAACTGAAAGCCCCTCCTAAA c.420
D G K C A Y R | A S Y S D G K L K A P P K p.140
. . . | 06 . . . g.20491
CCATGTGCTGGCAATCAAGGGACCCAGATCACG | GTGGAGGACCTTTTTTACAACATAGCC c.480
P C A G N Q G T Q I T | V E D L F Y N I A p.160
. . . . . . g.20551
ACGAGGAGAAAAGCTTTAAAAAATCCAAGTGAAGAATATGGGAAAATTTTGGAAGTTGTT c.540
T R R K A L K N P S E E Y G K I L E V V p.180
| 07 . . . . | 08 . g.23673
GGCAG | GTATTCAGTACACAATGCAGGCATTAGTTTCTCAGTTAAAAAA | CAAGGAGAGACA c.600
G R | Y S V H N A G I S F S V K K | Q G E T p.200
. . . . . . g.23733
GTAGCTGATGTTAGGACACTACCCAATGCCTCAACCGTGGACAATATTCGCTCCATCTTT c.660
V A D V R T L P N A S T V D N I R S I F p.220
. | 09. . . . . g.26125
GGAAATGCTGTTAGTCG | AGAACTGATAGAAATTGGATGTGAGGATAAAACCCTAGCCTTC c.720
G N A V S R | E L I E I G C E D K T L A F p.240
. . . . . . g.26185
AAAATGAATGGTTACATATCCAATGCAAACTACTCAGTGAAGAAGTGCATCTTCTTACTC c.780
K M N G Y I S N A N Y S V K K C I F L L p.260
. | 10 . . . . . g.29206
TTCATCAACC | ATCGTCTGGTAGAATCAACTTCCTTGAGAAAAGCCATAGAAACAGTGTAT c.840
F I N H | R L V E S T S L R K A I E T V Y p.280
. . . . | 11 . . g.31976
GCAGCCTATTTGCCCAAAAACACACACCCATTCCTGTACCTCAG | TTTAGAAATCAGTCCC c.900
A A Y L P K N T H P F L Y L S | L E I S P p.300
. . . . . . g.32036
CAGAATGTGGATGTTAATGTGCACCCCACAAAGCATGAAGTTCACTTCCTGCACGAGGAG c.960
Q N V D V N V H P T K H E V H F L H E E p.320
. . . . . . g.32096
AGCATCCTGGAGCGGGTGCAGCAGCACATCGAGAGCAAGCTCCTGGGCTCCAATTCCTCC c.1020
S I L E R V Q Q H I E S K L L G S N S S p.340
. | 12 . . . . g.37329
AGGATGTACTTCACCCAG | ACTTTGCTACCAGGACTTGCTGGCCCCTCTGGGGAGATGGTT c.1080
R M Y F T Q | T L L P G L A G P S G E M V p.360
. . . . . . g.37389
AAATCCACAACAAGTCTGACCTCGTCTTCTACTTCTGGAAGTAGTGATAAGGTCTATGCC c.1140
K S T T S L T S S S T S G S S D K V Y A p.380
. . . . . . g.37449
CACCAGATGGTTCGTACAGATTCCCGGGAACAGAAGCTTGATGCATTTCTGCAGCCTCTG c.1200
H Q M V R T D S R E Q K L D A F L Q P L p.400
. . . . . . g.37509
AGCAAACCCCTGTCCAGTCAGCCCCAGGCCATTGTCACAGAGGATAAGACAGATATTTCT c.1260
S K P L S S Q P Q A I V T E D K T D I S p.420
. . . . . . g.37569
AGTGGCAGGGCTAGGCAGCAAGATGAGGAGATGCTTGAACTCCCAGCCCCTGCTGAAGTG c.1320
S G R A R Q Q D E E M L E L P A P A E V p.440
. . . . . . g.37629
GCTGCCAAAAATCAGAGCTTGGAGGGGGATACAACAAAGGGGACTTCAGAAATGTCAGAG c.1380
A A K N Q S L E G D T T K G T S E M S E p.460
. . | 13 . . . g.40465
AAGAGAGGACCTACTTCCAGCAACCCCAG | AAAGAGACATCGGGAAGATTCTGATGTGGAA c.1440
K R G P T S S N P R | K R H R E D S D V E p.480
. . . . . . g.40525
ATGGTGGAAGATGATTCCCGAAAGGAAATGACTGCAGCTTGTACCCCCCGGAGAAGGATC c.1500
M V E D D S R K E M T A A C T P R R R I p.500
. . . . . | 14 g.51838
ATTAACCTCACTAGTGTTTTGAGTCTCCAGGAAGAAATTAATGAGCAGGGACATGAGG | TT c.1560
I N L T S V L S L Q E E I N E Q G H E V | p.520
. . . . . . g.51898
CTCCGGGAGATGTTGCATAACCACTCCTTCGTGGGCTGTGTGAATCCTCAGTGGGCCTTG c.1620
L R E M L H N H S F V G C V N P Q W A L p.540
. . . . | 15. . g.53931
GCACAGCATCAAACCAAGTTATACCTTCTCAACACCACCAAGCTTAG | TGAAGAACTGTTC c.1680
A Q H Q T K L Y L L N T T K L S | E E L F p.560
. . . . . | 16 . g.59178
TACCAGATACTCATTTATGATTTTGCCAATTTTGGTGTTCTCAGGTTATCG | GAGCCAGCA c.1740
Y Q I L I Y D F A N F G V L R L S | E P A p.580
. . . . . . g.59238
CCGCTCTTTGACCTTGCCATGCTTGCCTTAGATAGTCCAGAGAGTGGCTGGACAGAGGAA c.1800
P L F D L A M L A L D S P E S G W T E E p.600
. . . . . . g.59298
GATGGTCCCAAAGAAGGACTTGCTGAATACATTGTTGAGTTTCTGAAGAAGAAGGCTGAG c.1860
D G P K E G L A E Y I V E F L K K K A E p.620
. . . | 17 . . . g.60191
ATGCTTGCAGACTATTTCTCTTTGGAAATTGATGAG | GAAGGGAACCTGATTGGATTACCC c.1920
M L A D Y F S L E I D E | E G N L I G L P p.640
. . . . . . g.60251
CTTCTGATTGACAACTATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGACTA c.1980
L L I D N Y V P P L E G L P I F I L R L p.660
| 18 . . . . . g.60605
GCCACTGAG | GTGAATTGGGACGAAGAAAAGGAATGTTTTGAAAGCCTCAGTAAAGAATGC c.2040
A T E | V N W D E E K E C F E S L S K E C p.680
. . . . . . g.60665
GCTATGTTCTATTCCATCCGGAAGCAGTACATATCTGAGGAGTCGACCCTCTCAGGCCAG c.2100
A M F Y S I R K Q Y I S E E S T L S G Q p.700
| 19 . . . . . . g.62193
CAG | AGTGAAGTGCCTGGCTCCATTCCAAACTCCTGGAAGTGGACTGTGGAACACATTGTC c.2160
Q | S E V P G S I P N S W K W T V E H I V p.720
. . . . . . g.62253
TATAAAGCCTTGCGCTCACACATTCTGCCTCCTAAACATTTCACAGAAGATGGAAATATC c.2220
Y K A L R S H I L P P K H F T E D G N I p.740
. . . . . g.62304
CTGCAGCTTGCTAACCTGCCTGATCTATACAAAGTCTTTGAGAGGTGTTAA c.2271
L Q L A N L P D L Y K V F E R C X p.756
. . . . . . g.62364
atatggttatttatgcactgtgggatgtgttcttctttctctgtattccgatacaaagtg c.*60
. . . . . . g.62424
ttgtatcaaagtgtgatatacaaagtgtaccaacataagtgttggtagcacttaagactt c.*120
. . . . . . g.62484
atacttgccttctgatagtattcctttatacacagtggattgattataaataaatagatg c.*180
. g.62497
tgtcttaacataa c.*193
(downstream sequence)
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