(used for variant description)
(last modified August 19, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000143.3 in the FH gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012338.1, covering FH transcript NM_000143.3.
(upstream sequence)
g.4972
gac c.-61
. . . . . . g.5032
aaccggcgtggaggcgtggccacagccgcccagaaattctacccaagctccctcagcacc c.-1
. . . . . . g.5092
ATGTACCGAGCACTTCGGCTCCTCGCGCGCTCGCGTCCCCTCGTGCGGGCTCCAGCCGCA c.60
M Y R A L R L L A R S R P L V R A P A A p.20
. . . . . . g.5152
GCCTTAGCTTCGGCTCCCGGCTTGGGTGGCGCGGCCGTGCCCTCGTTTTGGCCTCCGAAC c.120
A L A S A P G L G G A A V P S F W P P N p.40
. | 02 . . . . . g.7486
GCGGCTCGAATG | GCAAGCCAAAATTCCTTCCGGATAGAATATGATACCTTTGGTGAACTA c.180
A A R M | A S Q N S F R I E Y D T F G E L p.60
. . . . . . g.7546
AAGGTGCCAAATGATAAGTATTATGGCGCCCAGACCGTGAGATCTACGATGAACTTTAAG c.240
K V P N D K Y Y G A Q T V R S T M N F K p.80
. . | 03. . . . g.11074
ATTGGAGGTGTGACAGAACGCATGCCA | ACCCCAGTTATTAAAGCTTTTGGCATCTTGAAG c.300
I G G V T E R M P | T P V I K A F G I L K p.100
. . . . . . g.11134
CGAGCGGCCGCTGAAGTAAACCAGGATTATGGTCTTGATCCAAAGATTGCTAATGCAATA c.360
R A A A E V N Q D Y G L D P K I A N A I p.120
. | 04 . . . . g.12653
ATGAAGGCAGCAGATGAG | GTAGCTGAAGGTAAATTAAATGATCATTTTCCTCTCGTGGTA c.420
M K A A D E | V A E G K L N D H F P L V V p.140
. . . . . . g.12713
TGGCAGACTGGATCAGGAACTCAGACAAATATGAATGTAAATGAAGTCATTAGCAATAGA c.480
W Q T G S G T Q T N M N V N E V I S N R p.160
. . . . . . g.12773
GCAATTGAAATGTTAGGAGGTGAACTTGGCAGCAAGATACCTGTGCATCCCAACGATCAT c.540
A I E M L G G E L G S K I P V H P N D H p.180
. | 05 . . . . . g.16014
GTTAATAAAAGCCAG | AGCTCAAATGATACTTTTCCCACAGCAATGCACATTGCTGCTGCA c.600
V N K S Q | S S N D T F P T A M H I A A A p.200
. . . . . . g.16074
ATAGAAGTTCATGAAGTACTGTTACCAGGACTACAGAAGTTACATGATGCTCTTGATGCA c.660
I E V H E V L L P G L Q K L H D A L D A p.220
. . . . . . g.16134
AAATCCAAAGAGTTTGCACAGATCATCAAGATTGGACGTACTCATACTCAGGATGCTGTT c.720
K S K E F A Q I I K I G R T H T Q D A V p.240
. | 06 . . . . g.18628
CCACTTACTCTTGGGCAG | GAATTTAGTGGTTATGTTCAACAAGTAAAATATGCAATGACA c.780
P L T L G Q | E F S G Y V Q Q V K Y A M T p.260
. . . . . . g.18688
AGAATAAAAGCTGCCATGCCAAGAATCTATGAGCTCGCAGCTGGAGGCACTGCTGTTGGT c.840
R I K A A M P R I Y E L A A G G T A V G p.280
. . . . . . g.18748
ACAGGTTTAAATACTAGAATTGGCTTTGCAGAAAAGGTTGCTGCAAAAGTGGCTGCACTT c.900
T G L N T R I G F A E K V A A K V A A L p.300
| 07 . . . . . . g.20565
ACAG | GCTTGCCTTTTGTCACTGCTCCGAATAAATTTGAAGCTCTGGCTGCTCATGACGCT c.960
T G | L P F V T A P N K F E A L A A H D A p.320
. . . . . . g.20625
CTGGTTGAGCTCAGTGGAGCCATGAACACTACTGCCTGCAGTCTGATGAAGATAGCAAAT c.1020
L V E L S G A M N T T A C S L M K I A N p.340
. . . . . . g.20685
GATATTCGATTTTTGGGTTCTGGTCCTCGGTCAGGTCTGGGAGAATTGATCTTGCCTGAA c.1080
D I R F L G S G P R S G L G E L I L P E p.360
. . | 08 . . . g.22216
AATGAACCAGGAAGCAGTATCATGCCAG | GCAAGGTGAACCCTACTCAGTGTGAAGCAATG c.1140
N E P G S S I M P G | K V N P T Q C E A M p.380
. . . . . . g.22276
ACCATGGTTGCAGCCCAAGTCATGGGGAACCATGTTGCTGTCACTGTCGGAGGCAGCAAT c.1200
T M V A A Q V M G N H V A V T V G G S N p.400
. . . | 09 . . . g.24188
GGACATTTTGAGTTGAATGTTTTCAAGCCAATGATG | ATTAAAAATGTGTTACACTCAGCC c.1260
G H F E L N V F K P M M | I K N V L H S A p.420
. . . . . . g.24248
AGGCTGCTGGGGGATGCTTCAGTTTCCTTTACAGAAAACTGCGTGGTGGGAATCCAGGCC c.1320
R L L G D A S V S F T E N C V V G I Q A p.440
. . . . . . g.24308
AATACAGAAAGGATCAACAAGCTGATGAATGAGTCTCTAATGTTGGTGACAGCTCTCAAT c.1380
N T E R I N K L M N E S L M L V T A L N p.460
. | 10 . . . . . g.26834
CCTCATATAG | GGTATGACAAGGCAGCAAAGATTGCTAAGACAGCACACAAAAATGGATCA c.1440
P H I G | Y D K A A K I A K T A H K N G S p.480
. . . . . . g.26894
ACCTTAAAGGAAACTGCTATCGAACTTGGCTATCTCACAGCAGAGCAGTTTGACGAATGG c.1500
T L K E T A I E L G Y L T A E Q F D E W p.500
. . . g.26927
GTAAAACCTAAGGACATGCTGGGTCCAAAGTGA c.1533
V K P K D M L G P K X p.510
. . . . . . g.26987
tttacataaatttataatgaaaataaacatgtataaaatttaaaaaaacagactcccatt c.*60
. . . . . . g.27047
tcttaaaaacggataagtttgaaaggaaactgctattgaacttaagcatctctagcagag c.*120
. . . . . . g.27107
caatttgatcagtatataaaaccctaggatgtgctaggtctaagatggattaaacaagta c.*180
. . . . . . g.27167
taaaataaaatacatttataaaataaaaaggaaaacagacttaaattttctcctatgtta c.*240
. . . g.27198
attgacttgtattatagttgaatctatgata c.*271
(downstream sequence)
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