(used for variant description)
(last modified December 1, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_024306.4 in the FA2H gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_017070.1, covering FA2H transcript NM_024306.4.
(upstream sequence)
. g.5016
cccgggatgttagagg c.-61
. . . . . . g.5076
cgctcagggtggcagcagagcagacgccgggctgcgcgctgggagctgcggtctccggcc c.-1
. . . . . . g.5136
ATGGCCCCCGCTCCGCCCCCCGCCGCCTCCTTCTCGCCCTCCGAGGTCCAGCGGCGCCTG c.60
M A P A P P P A A S F S P S E V Q R R L p.20
. . . . . . g.5196
GCGGCCGGCGCGTGCTGGGTCCGCCGCGGGGCCCGCCTCTACGACCTCTCCAGCTTCGTG c.120
A A G A C W V R R G A R L Y D L S S F V p.40
. . . . . . g.5256
CGGCACCACCCGGGGGGCGAGCAGCTGCTGCGGGCCAGGGCGGGCCAGGACATCAGCGCC c.180
R H H P G G E Q L L R A R A G Q D I S A p.60
. . . . . . g.5316
GACCTGGACGGGCCGCCGCACAGGCACTCGGCCAACGCGCGCCGCTGGCTGGAGCAGTAC c.240
D L D G P P H R H S A N A R R W L E Q Y p.80
. . . | 02 . . . g.39746
TACGTGGGAGAGCTCCGCGGGGAGCAGCAG | GGCTCCATGGAGAACGAGCCTGTAGCCCTT c.300
Y V G E L R G E Q Q | G S M E N E P V A L p.100
. . . . . . g.39806
GAGGAAACTCAGAAGACAGATCCTGCTATGGAACCACGGTTCAAAGTGGTGGATTGGGAC c.360
E E T Q K T D P A M E P R F K V V D W D p.120
| 03 . . . . . . g.52502
AAG | GACCTGGTGGACTGGCGAAAGCCTCTCCTGTGGCAGGTGGGCCACTTGGGAGAGAAG c.420
K | D L V D W R K P L L W Q V G H L G E K p.140
. . . . . . g.52562
TACGATGAGTGGGTTCACCAGCCGGTGACCAGGCCCATCCGCCTCTTCCACTCAGACCTC c.480
Y D E W V H Q P V T R P I R L F H S D L p.160
. . | 04 . . . . g.53534
ATTGAGGGCCTCTCTAAGACTGTCTG | GTACAGTGTCCCCATCATCTGGGTGCCCCTGGTG c.540
I E G L S K T V W | Y S V P I I W V P L V p.180
. . . . . . g.53594
CTGTATCTCAGCTGGTCCTACTACCGAACCTTTGCCCAGGGCAACGTCCGACTCTTCACG c.600
L Y L S W S Y Y R T F A Q G N V R L F T p.200
. | 05 . . . . . g.60718
TCATTTACAACAG | AGTACACGGTGGCAGTGCCCAAGTCCATGTTCCCCGGGCTCTTCATG c.660
S F T T E | Y T V A V P K S M F P G L F M p.220
. . . . . . g.60778
CTGGGGACATTCCTCTGGAGCCTCATCGAGTACCTCATCCACCGCTTCCTGTTCCACATG c.720
L G T F L W S L I E Y L I H R F L F H M p.240
. . . . . . g.60838
AAGCCCCCCAGCGACAGCTATTACCTCATCATGCTGCACTTCGTCATGCACGGCCAGCAC c.780
K P P S D S Y Y L I M L H F V M H G Q H p.260
| 06 . . . . . . g.63286
CACAAG | GCACCCTTCGACGGCTCCCGCCTGGTCTTCCCCCCTGTGCCAGCCTCCCTGGTG c.840
H K | A P F D G S R L V F P P V P A S L V p.280
. . . . . . g.63346
ATCGGCGTCTTCTACTTGTGCATGCAGCTCATCCTGCCCGAGGCAGTAGGGGGCACTGTG c.900
I G V F Y L C M Q L I L P E A V G G T V p.300
. . . . . . g.63406
TTTGCGGGGGGCCTCCTGGGCTACGTCCTCTATGACATGACCCATTACTACCTGCACTTT c.960
F A G G L L G Y V L Y D M T H Y Y L H F p.320
. . . . . . g.63466
GGCTCGCCGCACAAGGGCTCCTACCTGTACAGCCTGAAGGCCCACCACGTCAAGCACCAC c.1020
G S P H K G S Y L Y S L K A H H V K H H p.340
. | 07 . . . . g.65603
TTTGCACATCAGAAGTCAG | GATTTGGTATCAGCACTAAATTGTGGGATTACTGTTTCCAC c.1080
F A H Q K S G | F G I S T K L W D Y C F H p.360
. . . g.65642
ACCCTCACTCCAGAGAAACCCCACCTGAAGACGCAGTGA c.1119
T L T P E K P H L K T Q X p.372
. . . . . . g.65702
caactcccaccccctccgtcctgccctcagcccggccctggccccttcccgacccccacc c.*60
. . . . . . g.65762
cgccattcagaccccattaagaaggttggcttggccaggcaggatgggctgtgtccggcc c.*120
. . . . . . g.65822
ctgcagcctagtggaaggtgctgagggggccctgaggcaggaccgccctcctgacccctg c.*180
. . . . . . g.65882
gtaggagggtcacatccacttggtggccaggtggcccttggtgacccacttcttcctgga c.*240
. . . . . . g.65942
gcgtccctgcctagagctcagcccacaggactgcttcaggccgtggccacaggtagcagc c.*300
. . . . . . g.66002
cgcaaggggaaatgaagaaaactgagccctcgtggccacctgtgtcacccttgtgcctta c.*360
. . . . . . g.66062
gcctcatgggctgcctaggagctgcctgcacggcacagctcgctttcacagtcagaagtg c.*420
. . . . . . g.66122
ggtctgtgggatctgtggtccctgtcctccctgctgtcccttctggggaggctttggtgg c.*480
. . . . . . g.66182
ctctgaggtggacaaagagctctcgcaagaagagacagcgtgatgcctcccacagtccac c.*540
. . . . . . g.66242
cccagaccctggggcagcccctctggccctgccagctgcctgcgtcgttgggcccagggt c.*600
. . . . . . g.66302
ggctggcaggagtcccagctgcttgctttaggacctggcagcttttcttgccgtccctcc c.*660
. . . . . . g.66362
cctgcctccagaatcacagcccttctccccaagggaggctgaggaggcttctccaccagt c.*720
. . . . . . g.66422
ggcagccccaccccgtccctggccattcttggcctccaccccgctcaggcccctactcgg c.*780
. . . . . . g.66482
gcgctcccagaaggagccacctctcagtgcctcacctccccctgcctcccagcctccgca c.*840
. . . . . . g.66542
gatgaggttcctgccccttcctcctcgtaaccaaaaccctcactgctcccaggacggtct c.*900
. . . . . . g.66602
tatttataaaccagatacatgttcttagtctggtcccagaccaaggagctggtcagacgg c.*960
. . . . . . g.66662
ccctttctaatcctacatgttgagcttatgtaaaaaatgttgtttcctcctgtttttggt c.*1020
. . . . . . g.66722
tcctttcttacccacaaaccattactacttgaaacttaaaaaactcgccaagtgtaaagg c.*1080
. . . . . . g.66782
ctaaagagaagcagtttgacggaccttgtgatttgtactgtttgctgcggagctatttaa c.*1140
. . . . . . g.66842
agattttggaataaatatacaaaactacggttgtgaaataaaaacttaaattgtatattt c.*1200
. . . g.66877
tgaaaaataaaacactgaaaagaaaccaacaaaaa c.*1235
(downstream sequence)
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