(used for variant description)
(last modified November 21, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_177524.2 in the MEST gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009226.1, covering MEST transcript NM_177524.2.
(upstream sequence)
. . . . g.5012
ggcgctgacgcctggcagggagaaggcggcagcacatgctgg c.-181
. . . . . . g.5072
gctcgggggcgatgggcttgtgcgcggacctggcgacgctctagccccgagccgcgtatt c.-121
. . . . . . g.5132
cgtggccgggtcctccctgggaacagggtgaaggccgagaacctctggcctcaggaagcg c.-61
. . . . . . | 02 g.14164
catgcgcaaccggttctccgaaacatggagtcctgtaggcaaggtcttacctgaatcag | g c.-1
. . . . . . g.14224
ATGAGGGAGTGGTGGGTCCAGGTGGGGCTGCTGGCCGTGCCCCTGCTTGCTGCGTACCTG c.60
M R E W W V Q V G L L A V P L L A A Y L p.20
. . . . . . g.14284
CACATCCCACCCCCTCAGCTCTCCCCTGCCCTTCACTCATGGAAGTCTTCAGGCAAGTTT c.120
H I P P P Q L S P A L H S W K S S G K F p.40
. . . | 03 . . . g.15977
TTCACTTACAAGGGACTGCGTATCTTCTACCAAG | ACTCTGTGGGTGTGGTTGGAAGTCCA c.180
F T Y K G L R I F Y Q D | S V G V V G S P p.60
. . . . . | 04 . g.16737
GAGATAGTTGTGCTTTTACACGGTTTTCCAACATCCAGCTACGACTGGTACAAG | ATTTGG c.240
E I V V L L H G F P T S S Y D W Y K | I W p.80
. . . . . . g.16797
GAAGGTCTGACCTTGAGGTTTCATCGGGTGATTGCCCTTGATTTCTTAGGCTTTGGCTTC c.300
E G L T L R F H R V I A L D F L G F G F p.100
. | 05 . . . . . g.16982
AGTGACAAACCG | AGACCACATCACTATTCCATATTTGAGCAGGCCAGCATCGTGGAAGCG c.360
S D K P | R P H H Y S I F E Q A S I V E A p.120
. . . . . . g.17042
CTTTTGCGGCATCTGGGGCTCCAGAACCGCAGGATCAACCTTCTTTCTCATGACTATGGA c.420
L L R H L G L Q N R R I N L L S H D Y G p.140
. . | 06 . . . g.17245
GATATTGTTGCTCAGGAGCTTCTCTACAG | GTACAAGCAGAATCGATCTGGTCGGCTTACC c.480
D I V A Q E L L Y R | Y K Q N R S G R L T p.160
. . | 07 . . . g.18702
ATAAAGAGTCTCTGTCTGTCAAATGGAG | GTATCTTTCCTGAGACTCACCGTCCACTCCTT c.540
I K S L C L S N G G | I F P E T H R P L L p.180
| 08 . . . . . g.19308
CTCCAAAAG | CTACTCAAAGATGGAGGTGTGCTGTCACCCATCCTCACACGACTGATGAAC c.600
L Q K | L L K D G G V L S P I L T R L M N p.200
. . | 09 . . . . g.19624
TTCTTTGTATTCTCTCGAGG | TCTCACCCCAGTCTTTGGGCCGTATACTCGGCCCTCTGAG c.660
F F V F S R G | L T P V F G P Y T R P S E p.220
. . . . . . g.19684
AGTGAGCTGTGGGACATGTGGGCAGGGATCCGCAACAATGACGGGAACTTAGTCATTGAC c.720
S E L W D M W A G I R N N D G N L V I D p.240
| 10 . . . . . . g.21497
AG | TCTCTTACAGTACATCAATCAGAGGAAGAAGTTCAGAAGGCGCTGGGTGGGAGCTCTT c.780
S | L L Q Y I N Q R K K F R R R W V G A L p.260
. | 11 . . . . g.22769
GCCTCTGTAACTATCCCCA | TTCATTTTATCTATGGGCCATTGGATCCTGTAAATCCCTAT c.840
A S V T I P I | H F I Y G P L D P V N P Y p.280
. . | 12 . . . . g.23771
CCAGAGTTTTTGGAGCTGTACAG | GAAAACGCTGCCGCGGTCCACAGTGTCGATTCTGGAT c.900
P E F L E L Y R | K T L P R S T V S I L D p.300
. . . . . . g.23831
GACCACATTAGCCACTATCCACAGCTAGAGGATCCCATGGGCTTCTTGAATGCATATATG c.960
D H I S H Y P Q L E D P M G F L N A Y M p.320
. . g.23852
GGCTTCATCAACTCCTTCTGA c.981
G F I N S F X p.326
. . . . . . g.23912
gctggaaagagtagcttccctgtattacctcccctactcccttatgtgttgtgtattcca c.*60
. . . . . . g.23972
cttaggaagaaatgcccaaaagaggtcctggccatcaaacataattctctcacaaagtcc c.*120
. . . . . . g.24032
actttactcaaattggtgaacagtgtataggaagaagccagcaggagctctgactaaggt c.*180
. . . . . . g.24092
tgacataatagtccacctcccattactttgatatctgatcaaatgtatagacttggcttt c.*240
. . . . . . g.24152
gttttttgtgctattaggaaattctgatgagcattactattcactgatgcagaaagacgt c.*300
. . . . . . g.24212
tcttttgcataaaagacttttttttaacactttggacttctctgaaatatttagaagtgc c.*360
. . . . . . g.24272
taatttctggcccacccccaacaggaattctatagtaaggaggaggagaaggggggctcc c.*420
. . . . . . g.24332
ttccctctcctcgaatgacgttatgggcacatgccttttaaaagttctttaagcaacaca c.*480
. . . . . . g.24392
gagctgagtcctctttgtcatacctttggatttagtgtttcatcagctgtttttagttat c.*540
. . . . . . g.24452
aaacattttgttaaaatagatattggtttaaatgatacagtattttaggtatgatttaag c.*600
. . . . . . g.24512
actatgatttacctatacattatatatattttataaagatactaaaccagcataccctta c.*660
. . . . . . g.24572
ctctgccagagtagtgaagctaattaaacacatttggtttctgaataaattgaactaaat c.*720
. . . . . . g.24632
ccaaactatttcctaaaatcacaggacattaaggaccaatagcatctgtgccagagatgt c.*780
. . . . . . g.24692
actgttattagctgggaagaccaattctaacagcaaataacagtctgagactcctcatac c.*840
. . . . . . g.24752
ctcagtggttagaagcatgtctctcttgagctacagtagaggggaagggattgttgtgta c.*900
. . . . . . g.24812
gtcaagtcaccatgctgaatgtacactgattcctttatgatgactgcttaactccccact c.*960
. . . . . . g.24872
gcctgtcccagagaggctttccaatgtagctcagtaattcctgttactttacagacagga c.*1020
. . . . . . g.24932
aagttccagaaactttaagaacaaactctgaaagacctatgagcaaatggtgctgaatac c.*1080
. . . . . . g.24992
tttttttttaaagccacatttcattgtcttagtcaaagcaggattattaagtgattattt c.*1140
. . . . . . g.25052
aaaattcgtttttttaaattagcaacttcaagtataacaactttgaaactggaataagtg c.*1200
. . . . g.25093
tttattttctattaataaaaatgaattgtgacaaaagtgga c.*1241
(downstream sequence)
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