(used for mutation description)
(last modified May 1, 2014)
This file was created to facilitate the description of sequence variants in the MALT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000018.9, covering MALT1 transcript NM_006785.3.
(upstream sequence)
. g.1018
cgaggctccgtgccccgc c.-241
. . . . . . g.1078
cccccgggtgccccgcccctttgcgcggctggcgcggccagcaggccaggctcccctcgg c.-181
. . . . . . g.1138
caaacctgtctaattggggcggggagcggagcttcctcctctgagggccgtgccgcgctg c.-121
. . . . . . g.1198
ccagatttgttcttccgcccctgcctccgcggctcggaggcgagcggaaggtgccccggg c.-61
. . . . . . g.1258
gccgaggcccgtgacggggcgggcgggagccccggcagtccggggtcgccggcgagggcc c.-1
. . . . . . g.1318
ATGTCGCTGTTGGGGGACCCGCTACAGGCCCTGCCGCCCTCGGCCGCCCCCACGGGGCCG c.60
M S L L G D P L Q A L P P S A A P T G P p.20
. . . . . . g.1378
CTGCTCGCCCCTCCGGCCGGCGCGACCCTCAACCGCCTGCGGGAGCCGCTGCTGCGGAGG c.120
L L A P P A G A T L N R L R E P L L R R p.40
. . . . . . g.1438
CTCAGCGAGCTCCTGGATCAGGCGCCCGAGGGCCGGGGCTGGAGGAGACTGGCGGAGCTG c.180
L S E L L D Q A P E G R G W R R L A E L p.60
. . | 02 . . . g.10815
GCGGGGAGTCGCGGGCGCCTCCGCCTCAG | TTGCCTAGACCTGGAGCAGTGTTCTCTTAAG c.240
A G S R G R L R L S | C L D L E Q C S L K p.80
. . . . . . g.10875
GTACTGGAGCCTGAAGGAAGCCCCAGCCTGTGTCTGCTGAAGTTAATGGGTGAAAAAGGT c.300
V L E P E G S P S L C L L K L M G E K G p.100
. . . . . . g.10935
TGCACAGTCACAGAATTGAGTGATTTCCTGCAGGCTATGGAACACACTGAAGTTCTTCAG c.360
C T V T E L S D F L Q A M E H T E V L Q p.120
. | 03 . . . . . g.26024
CTTCTCAGCCCCCCAG | GAATAAAGATTACTGTAAACCCAGAGTCAAAGGCAGTCTTGGCT c.420
L L S P P G | I K I T V N P E S K A V L A p.140
. . . . . . g.26084
GGACAGTTTGTGAAACTGTGTTGCCGGGCAACTGGACATCCTTTTGTTCAATATCAGTGG c.480
G Q F V K L C C R A T G H P F V Q Y Q W p.160
. | 04 . . . . g.30097
TTCAAAATGAATAAAGAG | ATTCCAAATGGAAATACATCAGAGCTTATTTTTAATGCAGTG c.540
F K M N K E | I P N G N T S E L I F N A V p.180
. . . . . . g.30157
CATGTAAAAGATGCAGGCTTTTATGTCTGTCGAGTTAATAACAATTTCACCTTTGAATTC c.600
H V K D A G F Y V C R V N N N F T F E F p.200
. . . . | 05 . g.39003
AGCCAGTGGTCACAGCTGGATGTTTGCGACATCCCAGAGAGCTTCCAGA | GAAGTGTTGAT c.660
S Q W S Q L D V C D I P E S F Q R | S V D p.220
. . . . . . g.39063
GGCGTCTCTGAATCCAAGTTGCAAATCTGTGTTGAACCAACTTCCCAAAAGCTGATGCCA c.720
G V S E S K L Q I C V E P T S Q K L M P p.240
. . . . . . g.39123
GGCAGCACATTGGTTTTACAGTGTGTTGCTGTTGGAAGCCCTATTCCTCACTACCAGTGG c.780
G S T L V L Q C V A V G S P I P H Y Q W p.260
. . . . | 06 . g.39602
TTCAAAAATGAATTACCATTAACACATGAGACCAAAAAGCTATACATG | GTGCCTTATGTG c.840
F K N E L P L T H E T K K L Y M | V P Y V p.280
. . . . . . g.39662
GATTTGGAACACCAAGGAACCTACTGGTGTCATGTATATAATGATCGAGACAGTCAAGAT c.900
D L E H Q G T Y W C H V Y N D R D S Q D p.300
. . | 07 . . . | 08 g.43699
AGCAAGAAGGTAGAAATCATCATAG | GAAGAACAGATGAGGCAGTGGAGTGCACTGAAG | AT c.960
S K K V E I I I G | R T D E A V E C T E D | p.320
. . | 09 . . . | 10 g.52664
GAATTAAATAATCTTGGTCATCCTG | ATAATAAAGAGCAAACAACTGACCAGCCTTTGG | CG c.1020
E L N N L G H P D | N K E Q T T D Q P L A | p.340
. . . . . . g.52724
AAGGACAAGGTTGCCCTTTTGATAGGAAATATGAATTACCGGGAGCACCCCAAGCTCAAA c.1080
K D K V A L L I G N M N Y R E H P K L K p.360
. . . . . . g.52784
GCTCCTTTGGTGGATGTGTACGAATTGACTAACTTACTGAGACAGCTGGACTTCAAAGTG c.1140
A P L V D V Y E L T N L L R Q L D F K V p.380
. . . . . . g.52844
GTTTCACTGTTGGATCTTACTGAATATGAGATGCGTAATGCTGTGGATGAGTTTTTACTC c.1200
V S L L D L T E Y E M R N A V D E F L L p.400
. . | 11 . . . . g.63049
CTTTTAGACAAGGGAGTATATG | GGTTATTATATTATGCAGGACATGGTTATGAAAATTTT c.1260
L L D K G V Y G | L L Y Y A G H G Y E N F p.420
. . . . . . g.63109
GGGAACAGCTTCATGGTCCCCGTTGATGCTCCAAATCCATATAGGTCTGAAAATTGTCTG c.1320
G N S F M V P V D A P N P Y R S E N C L p.440
. . . . . . g.63169
TGTGTACAAAATATACTGAAATTGATGCAAGAAAAAGAAACTGGACTTAATGTGTTCTTA c.1380
C V Q N I L K L M Q E K E T G L N V F L p.460
. . | 12 . . . . g.63961
TTGGATATGTGTAGGAAAAG | AAATGACTACGATGATACCATTCCAATCTTGGATGCACTA c.1440
L D M C R K R | N D Y D D T I P I L D A L p.480
. . . | 13 . . . g.64841
AAAGTCACCGCCAATATTGTGTTTGGATATGCCAC | GTGTCAAGGAGCAGAAGCTTTTGAA c.1500
K V T A N I V F G Y A T | C Q G A E A F E p.500
. . . . . . g.64901
ATCCAGCATTCTGGATTGGCAAATGGAATCTTTATGAAATTTTTAAAAGACAGATTATTA c.1560
I Q H S G L A N G I F M K F L K D R L L p.520
. . . . | 14 . . g.71496
GAAGATAAGAAAATCACTGTGTTACTGGATGAAGTTGCAGAAG | ATATGGGTAAGTGTCAC c.1620
E D K K I T V L L D E V A E D | M G K C H p.540
. . . . . . g.71556
CTTACCAAAGGCAAACAGGCTCTAGAGATTCGAAGTAGTTTATCTGAGAAGAGAGCACTT c.1680
L T K G K Q A L E I R S S L S E K R A L p.560
. . . . . . g.71616
ACTGATCCAATACAGGGAACAGAATATTCTGCTGAATCTCTTGTGCGGAATCTACAGTGG c.1740
T D P I Q G T E Y S A E S L V R N L Q W p.580
. | 15 . . . . . g.73999
GCCAAGGCTCATG | AACTTCCAGAAAGTATGTGTCTTAAGTTTGACTGTGGTGTTCAGATT c.1800
A K A H E | L P E S M C L K F D C G V Q I p.600
. . . . . . g.74059
CAATTAGGATTTGCAGCTGAGTTTTCCAATGTCATGATCATCTATACAAGTATAGTTTAC c.1860
Q L G F A A E F S N V M I I Y T S I V Y p.620
. . . . . | 16 . g.75289
AAACCACCGGAGATAATAATGTGTGATGCCTACGTTACTGATTTTCCACTT | GATCTAGAT c.1920
K P P E I I M C D A Y V T D F P L | D L D p.640
. . . . . . g.75349
ATTGATCCAAAAGATGCAAATAAAGGCACACCTGAAGAAACTGGCAGCTACTTGGTATCA c.1980
I D P K D A N K G T P E E T G S Y L V S p.660
. . . . . | 17. g.77022
AAGGATCTTCCCAAGCATTGCCTCTATACCAGACTCAGTTCACTGCAAAAATTAAAG | GAA c.2040
K D L P K H C L Y T R L S S L Q K L K | E p.680
. . . . . . g.77082
CATCTAGTCTTCACAGTATGTTTATCATATCAGTACTCAGGATTGGAAGATACTGTAGAG c.2100
H L V F T V C L S Y Q Y S G L E D T V E p.700
. . . . . . g.77142
GACAAGCAGGAAGTGAATGTTGGGAAACCTCTCATTGCTAAATTAGACATGCATCGAGGT c.2160
D K Q E V N V G K P L I A K L D M H R G p.720
. . . . . . g.77202
TTGGGAAGGAAGACTTGCTTTCAAACTTGTCTTATGTCTAATGGTCCTTACCAGAGTTCT c.2220
L G R K T C F Q T C L M S N G P Y Q S S p.740
. . . . . . g.77262
GCAGCCACCTCAGGAGGAGCAGGGCATTATCACTCATTGCAAGACCCATTCCATGGTGTT c.2280
A A T S G G A G H Y H S L Q D P F H G V p.760
. . . . . . g.77322
TACCATTCACATCCTGGTAATCCAAGTAATGTTACACCAGCAGATAGCTGTCATTGCAGC c.2340
Y H S H P G N P S N V T P A D S C H C S p.780
. . . . . . g.77382
CGGACTCCAGATGCATTTATTTCAAGTTTCGCTCACCATGCTTCATGTCATTTTAGTAGA c.2400
R T P D A F I S S F A H H A S C H F S R p.800
. . . . . . g.77442
AGTAATGTGCCAGTAGAGACAACTGATGAAATACCATTTAGTTTCTCTGACAGGCTCAGA c.2460
S N V P V E T T D E I P F S F S D R L R p.820
. g.77457
ATTTCTGAAAAATGA c.2475
I S E K X p.824
. . . . . . g.77517
cctccttgtttttgaaagttagcataattttagatgcctgtgaaatagtactgcacttac c.*60
. . . . . . g.77577
ataaagtgagacattgtgaaaaggcaaatttgtatatgtagagaaagaatagtagtaact c.*120
. . . . . . g.77637
gtttcatagcaaacttcaggactttgagatgttgaaattacattatttaattacagactt c.*180
. . . . . . g.77697
cctctttctaagattttgtgaattggttgaatagttctatacaaatgaagtatggaggtg c.*240
. . . . . . g.77757
tgtatgtttatatgtatataacaaaatattttcattgtgaccactctgaagtaagagcaa c.*300
. . . . . . g.77817
tgggaatggcattattgtagaataagtcattgtatttttaacaccagaaagaaccttgcc c.*360
. . . . . . g.77877
gatcaccaggcataacctaattttatccatggaagaaacacagaaaggcatctaagttag c.*420
. . . . . . g.77937
agctggcaccagaactgagacctccagaaatctattccagtattttttccactacacaac c.*480
. . . . . . g.77997
tgccttcctgacaggttctgagataagtgttatgtttgtagatagagtgaaatatattta c.*540
. . . . . . g.78057
tatatatataaatatatacagatacatatctgtgtattatctcaaggaatgtacaaactt c.*600
. . . . . . g.78117
tagtttttgattataaggacttcactgcaagttttagttaagaggtttgtatataaatct c.*660
. . . . . . g.78177
gttatagaacaggctgaaatttcttgttcataagattatgaaaccacatgagaagtgata c.*720
. . . . . . g.78237
aaatgtttgttaaagctagatagaggttaagaatcaagatataatggataattttcatag c.*780
. . . . . . g.78297
ctgcctatcagaatttcccaaatatttagcatcttccttgataatatgtattttcttctt c.*840
. . . . . . g.78357
gaatttcactggcctaatgagataatactcttatctttggctctacctaaaagttggtta c.*900
. . . . . . g.78417
aaaatgcaattggcattaacaaggaaaaatactgaattagtaattttaaaagtctcacaa c.*960
. . . . . . g.78477
agaaaatcccaggcctagatggctgcattgttgaattctgccaaacattaaaattagcac c.*1020
. . . . . . g.78537
taattttttgcacactgtttctaaaagtaggagaggaaagaacacttcccaacttactct c.*1080
. . . . . . g.78597
aggtcagtattaccctgatactagactagacatcacaagaaaactataagccaatattcc c.*1140
. . . . . . g.78657
ttattaatacaaacacaaaaatcattaacaaaaatattagcaaactgaatccagcaacct c.*1200
. . . . . . g.78717
ataaaaaggattctatatcatgaccaagtggaatttatcccaggaattcaaggttggttc c.*1260
. . . . . . g.78777
aacatctaaaaatcaaataagctaatatacagtcagttctcattattcacagtaattatg c.*1320
. . . . . . g.78837
ttctacagaatattctcccataaacactgaattaaatatggaacaactgcttttaggaga c.*1380
. . . . . . g.78897
aagtgtatttgtgtatatgtgtgtatacatatgtttatctcacacacattatgagcttga c.*1440
. . . . . . g.78957
attcttaattcatcctagcaaattctaccttattttacagaagtgaaagtgaggtatcag c.*1500
. . . . . . g.79017
aagtgttaagtgacatgcctgaggcacccccctaacaggtgtcagagctgaaattcaaac c.*1560
. . . . . . g.79077
cccatccagctggccccggagccagagcttcttgtactacacagaattgcccctgccatt c.*1620
. . . . . . g.79137
tccaccctccagtcatttctctatgagactgaagcaggaaggcagagcatcatcttgttc c.*1680
. . . . . . g.79197
agcctcagctgggaacatgtgtactgggtgactcaaatttttcacccatttacacatatc c.*1740
. . . . . . g.79257
cacaaatgactgcaaaagtgccacggatatcaatttgagggttataaattttagcaagtt c.*1800
. . . . . . g.79317
ggtaaattcacaaatacataaccttgaataatgaggatcaactgtaccatatttaataaa c.*1860
. . . . . . g.79377
gcacaaaacccacacagattgtcttattacagcatttgataaaatccaaaactctttcat c.*1920
. . . . . . g.79437
aaaaacactcaacaaacttaggaataaaaggaatcttcctagatatgataaatataacat c.*1980
. . . . . . g.79497
ctatgaaaagcccacacctaacattatacttcatggtgatagactgaaggctgaatgttt c.*2040
. . . . . . g.79557
tccccttaagattgggaagaaggacaaggatgttcactcggcactacttctattcagcat c.*2100
. . . . . . g.79617
tgtacttgaagttctagccacagcagttaggttaggaattcaaggtttgttcaacatcta c.*2160
. . . . . . g.79677
aaaatcaaataagctaataaagaaaagaggtttatactgcaaaagaagtgaaactatatg c.*2220
. . . . . . g.79737
tattcacagttgatacatagttgtatatagaaaatgctaaagaatccataaaaagtaata c.*2280
. g.79754
aatgagttcaacaggtt c.*2297
(downstream sequence)
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