(used for variant description)
(last modified February 23, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_001128425.1 in the MUTYH gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering MUTYH transcript NM_001128425.1.
(upstream sequence)
. . . g.5036
cagccggagccgcggtgtacaacggaacttgtagtc c.-181
. . . . . . g.5096
tcctcgtggctagttcaggcggaaggagcagtcctctgaagcttgaggagcctctagaac c.-121
. . . . . . g.5156
tatgagcccgaggccttcccctctcccagagcgcagaggctttgaaggctacctctggga c.-61
. . . . . . g.5216
agccgctcaccgtcggaagctgcgggagctgaaactgcgccatcgtcactgtcggcggcc c.-1
. . . | 02 . . . g.10983
ATGACACCGCTCGTCTCCCGCCTGAGTCGTCTGTGG | GCCATCATGAGGAAGCCACGAGCA c.60
M T P L V S R L S R L W | A I M R K P R A p.20
. . . . . . g.11043
GCCGTGGGAAGTGGTCACAGGAAGCAGGCAGCCAGCCAGGAAGGGAGGCAGAAGCATGCT c.120
A V G S G H R K Q A A S Q E G R Q K H A p.40
. . . | 03. . . g.11890
AAGAACAACAGTCAGGCCAAGCCTTCTGCCTGTGATG | CCTGTGCAGGGATGATTGCTGAG c.180
K N N S Q A K P S A C D A | C A G M I A E p.60
. . . . . . g.11950
TGTCCTGGGGCCCCAGCAGGCCTGGCCAGGCAGCCGGAAGAGGTGGTATTGCAGGCCTCT c.240
C P G A P A G L A R Q P E E V V L Q A S p.80
. . . . . . g.12010
GTCTCCTCATACCATCTATTCAGAGACGTAGCTGAAGTCACAGCCTTCCGAGGGAGCCTG c.300
V S S Y H L F R D V A E V T A F R G S L p.100
. . . . | 04 . g.12158
CTAAGCTGGTACGACCAAGAGAAACGGGACCTACCATGGAGAAGACGG | GCAGAAGATGAG c.360
L S W Y D Q E K R D L P W R R R | A E D E p.120
. . | 05 . . . g.12332
ATGGACCTGGACAGGCGGGCATATGCTG | TGTGGGTCTCAGAGGTCATGCTGCAGCAGACC c.420
M D L D R R A Y A V | W V S E V M L Q Q T p.140
. . . . | 06 . . g.12529
CAGGTTGCCACTGTGATCAACTACTATACCGGATGGATGCAG | AAGTGGCCTACACTGCAG c.480
Q V A T V I N Y Y T G W M Q | K W P T L Q p.160
. . | 07 . . . . g.12672
GACCTGGCCAGTGCTTCCCTGGAG | GAGGTGAATCAACTCTGGGCTGGCCTGGGCTACTAT c.540
D L A S A S L E | E V N Q L W A G L G Y Y p.180
. . . | 08 . . . g.12807
TCTCGTGGCCGGCGGCTGCAGGAGGGAGCTCGGAAG | GTGGTAGAGGAGCTAGGGGGCCAC c.600
S R G R R L Q E G A R K | V V E E L G G H p.200
. . . . . . g.12867
ATGCCACGTACAGCAGAGACCCTGCAGCAGCTCCTGCCTGGCGTGGGGCGCTACACAGCT c.660
M P R T A E T L Q Q L L P G V G R Y T A p.220
. . . | 09 . . . g.13012
GGGGCCATTGCCTCTATCGCCTTTGGCCAG | GCAACCGGTGTGGTGGATGGCAACGTAGCA c.720
G A I A S I A F G Q | A T G V V D G N V A p.240
. . . . . . g.13072
CGGGTGCTGTGCCGTGTCCGAGCCATTGGTGCTGATCCCAGCAGCACCCTTGTTTCCCAG c.780
R V L C R V R A I G A D P S S T L V S Q p.260
| 10 . . . . . g.13212
CAGCTCTG | GGGTCTAGCCCAGCAGCTGGTGGACCCAGCCCGGCCAGGAGATTTCAACCAA c.840
Q L W | G L A Q Q L V D P A R P G D F N Q p.280
. . . . . . g.13272
GCAGCCATGGAGCTAGGGGCCACAGTGTGTACCCCACAGCGCCCACTGTGCAGCCAGTGC c.900
A A M E L G A T V C T P Q R P L C S Q C p.300
. . . | 11 . . . g.13411
CCTGTGGAGAGCCTGTGCCGGGCACGCCAGAGA | GTGGAGCAGGAACAGCTCTTAGCCTCA c.960
P V E S L C R A R Q R | V E Q E Q L L A S p.320
. . . | 12. . . g.13644
GGGAGCCTGTCGGGCAGTCCTGACGTGGAGGAGTGTG | CTCCCAACACTGGACAGTGCCAC c.1020
G S L S G S P D V E E C A | P N T G Q C H p.340
. . . . . . g.13704
CTGTGCCTGCCTCCCTCGGAGCCCTGGGACCAGACCCTGGGAGTGGTCAACTTCCCCAGA c.1080
L C L P P S E P W D Q T L G V V N F P R p.360
. . . . . . g.13764
AAGGCCAGCCGCAAGCCCCCCAGGGAGGAGAGCTCTGCCACCTGTGTTCTGGAACAGCCT c.1140
K A S R K P P R E E S S A T C V L E Q P p.380
. . . . | 13 . . g.13928
GGGGCCCTTGGGGCCCAAATTCTGCTGGTGCAGAGGCCCAACTCAG | GTCTGCTGGCAGGA c.1200
G A L G A Q I L L V Q R P N S G | L L A G p.400
. . . . . . g.13988
CTGTGGGAGTTCCCGTCCGTGACCTGGGAGCCCTCAGAGCAGCTTCAGCGCAAGGCCCTG c.1260
L W E F P S V T W E P S E Q L Q R K A L p.420
. . . . . . g.14048
CTGCAGGAACTACAGCGTTGGGCTGGGCCCCTCCCAGCCACGCACCTCCGGCACCTTGGG c.1320
L Q E L Q R W A G P L P A T H L R H L G p.440
| 14 . . . . . . g.14193
GAG | GTTGTCCACACCTTCTCTCACATCAAGCTGACATATCAAGTATATGGGCTGGCCTTG c.1380
E | V V H T F S H I K L T Y Q V Y G L A L p.460
. . . . . . g.14253
GAAGGGCAGACCCCAGTGACCACCGTACCACCAGGTGCTCGCTGGCTGACGCAGGAGGAA c.1440
E G Q T P V T T V P P G A R W L T Q E E p.480
. . . | 15 . . . g.14937
TTTCACACCGCAGCTGTTTCCACCGCCATGAAAAAG | GTTTTCCGTGTGTATCAGGGCCAA c.1500
F H T A A V S T A M K K | V F R V Y Q G Q p.500
. | 16 . . . . g.16075
CAGCCAGGGACCTGTATG | GGTTCCAAAAGGTCCCAGGTGTCCTCTCCGTGCAGTCGGAAA c.1560
Q P G T C M | G S K R S Q V S S P C S R K p.520
. . . . . . g.16135
AAGCCCCGCATGGGCCAGCAAGTCCTGGATAATTTCTTTCGGTCTCACATCTCCACTGAT c.1620
K P R M G Q Q V L D N F F R S H I S T D p.540
. . . g.16165
GCACACAGCCTCAACAGTGCAGCCCAGTGA c.1650
A H S L N S A A Q X p.549
. . . . . . g.16225
cacctctgaaagcccccattccctgagaatcctgttgttagtaaagtgcttatttttgta c.*60
g.16229
gtta c.*64
(downstream sequence)
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