(used for variant description)
(last modified December 15, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_002643.3 in the PIGF gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering PIGF transcript NM_002643.3.
(upstream sequence)
. . . . g.5044
cgcccctccctttctgcgactggctgttaggcgtgggtctccgc c.-121
. . . . . . g.5104
cccacagccctgcgcctgcgcgtgggcctgggccgcccgtcgtacctgatggtaggaggc c.-61
. . . . | 02 . g.6948
agtagttccccgcttcccttccgcgggagggagagttag | ctagccatccaagaaaacacc c.-1
. . . . . . g.7008
ATGAAAGATAACGATATCAAGAGACTACTGTATACCCATCTTTTATGCATATTTTCAATT c.60
M K D N D I K R L L Y T H L L C I F S I p.20
. . . . . . g.7068
ATCCTAAGTGTCTTCATTCCATCACTCTTCTTGGAGAACTTCTCAATATTGGAAACACAC c.120
I L S V F I P S L F L E N F S I L E T H p.40
. . . . . . g.7128
TTGACATGGTTGTGCATCTGTTCTGGTTTTGTAACTGCTGTCAATCTAGTACTATATTTA c.180
L T W L C I C S G F V T A V N L V L Y L p.60
. . . . | 03 . g.8339
GTAGTGAAACCAAATACATCCTCTAAAAGAAGTTCATTATCACACAAG | GTAACTGGATTT c.240
V V K P N T S S K R S S L S H K | V T G F p.80
. . . . . . g.8399
TTGAAATGCTGTATCTACTTTCTTATGTCTTGTTTCTCCTTTCATGTAATTTTTGTTCTG c.300
L K C C I Y F L M S C F S F H V I F V L p.100
. . | 04 . . . . g.9808
TATGGAGCACCACTGATAGA | GTTGGCATTGGAAACATTTTTATTTGCAGTTATTTTGTCT c.360
Y G A P L I E | L A L E T F L F A V I L S p.120
. . . . . . g.9868
ACTTTTACTACTGTGCCTTGCTTATGTTTGTTAGGACCAAACCTCAAAGCATGGCTAAGA c.420
T F T T V P C L C L L G P N L K A W L R p.140
. | 05. . . . . g.29572
GTGTTCAGTAGAAATGG | AGTTACATCCATATGGGAGAATAGTCTCCAGATCACTACAATT c.480
V F S R N G | V T S I W E N S L Q I T T I p.160
. . . . . . g.29632
TCTAGCTTTGTAGGAGCATGGCTTGGAGCACTTCCTATTCCACTGGATTGGGAAAGACCA c.540
S S F V G A W L G A L P I P L D W E R P p.180
| 06 . . . . . . g.40575
TGGCAG | GTATGGCCCATCTCCTGTACGCTTGGAGCGACCTTTGGCTACGTGGCTGGCCTT c.600
W Q | V W P I S C T L G A T F G Y V A G L p.200
. . . . . . g.40635
GTTATTTCACCACTCTGGATATACTGGAATAGAAAGCAACTTACATACAAGAACAATTAA c.660
V I S P L W I Y W N R K Q L T Y K N N X p.219
. . . . . . g.40695
ctggagcaaagggagatatttctttgtgcagattctgtaagggctgggcagaaatgtgta c.*60
. . . . . . g.40755
tggtcaaagccaagcagttccatttacagctctgttttttacgtagttacaacatgatgt c.*120
. . . . . . g.40815
gattgtagctttttaaactatgaaacccctgagagattgtaccttctagttgaaataaag c.*180
. . g.40839
tatttataatagattgtggcttca c.*204
(downstream sequence)
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