(used for variant description)
(last modified November 11, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001195.3 in the BFSP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012423.2, covering BFSP1 transcript NM_001195.3.
(upstream sequence)
. . . g.32631
ccggctcggcgccgcccgcgcgcccgcgccagagcagcc c.-1
. . . . . . g.32691
ATGTACCGGCGCAGCTACGTCTTCCAGACCCGCAAGGAGCAGTACGAGCACGCCGACGAG c.60
M Y R R S Y V F Q T R K E Q Y E H A D E p.20
. . . . . . g.32751
GCTTCGCGCGCCGCCGAGCCCGAGCGCCCGGCCGACGAGGGCTGGGCTGGGGCAACGAGC c.120
A S R A A E P E R P A D E G W A G A T S p.40
. . . . . . g.32811
CTGGCGGCGCTGCAGGGGCTCGGCGAGCGCGTGGCCGCCCACGTCCAGCGGGCCCGCGCC c.180
L A A L Q G L G E R V A A H V Q R A R A p.60
. . . . . . g.32871
CTCGAGCAGCGCCATGCCGGGCTCCGGAGGCAGCTGGATGCCTTCCAGCGCCTGGGCGAG c.240
L E Q R H A G L R R Q L D A F Q R L G E p.80
. . . . . . g.32931
CTGGCCGGGCCCGAGGACGCCCTCGCCCGCCAAGTCGAGAGCAACCGCCAGCGCGTCCGG c.300
L A G P E D A L A R Q V E S N R Q R V R p.100
. . . . . . g.32991
GACCTGGAGGCCGAGCGCGCCCGGCTGGAGCGCCAGGGCACCGAGGCGCAGCGCGCGCTC c.360
D L E A E R A R L E R Q G T E A Q R A L p.120
. | 02. . . . . g.39095
GACGAGTTCCGAAGCAA | GTATGAAAATGAGTGCGAATGTCAACTCCTGCTAAAAGAAATG c.420
D E F R S K | Y E N E C E C Q L L L K E M p.140
. | 03 . . . . g.49186
CTTGAACGGCTTAACAAG | GAAGCTGATGAAGCCTTGCTGCATAACCTACGCCTTCAGCTG c.480
L E R L N K | E A D E A L L H N L R L Q L p.160
. . . . . | 04 . g.51898
GAAGCCCAATTTCTGCAAGATGATATCAGTGCGGCAAAGGACAGGCACAAGAAG | AATCTT c.540
E A Q F L Q D D I S A A K D R H K K | N L p.180
. . . . . . g.51958
CTGGAAGTTCAGACCTATATCAGCATCCTGCAGCAGATCATCCACACCACTCCTCCAGCA c.600
L E V Q T Y I S I L Q Q I I H T T P P A p.200
. . | 05. . . . g.54997
TCCATTGTGACGAGTGGGATGAGGGAG | GAGAAGCTCCTGACGGAGCGGGAGGTGGCCGCC c.660
S I V T S G M R E | E K L L T E R E V A A p.220
. . . . . . g.55057
CTGCGGAGTCAGCTGGAGGAGGGCCGGGAGGTGCTCTCCCACCTGCAGGCGCAGAGAGTG c.720
L R S Q L E E G R E V L S H L Q A Q R V p.240
. | 06 . . . . . g.64965
GAGCTGCAGGCACAG | ACAACAACTCTGGAACAAGCTATTAAAAGTGCCCATGAGTGTTAT c.780
E L Q A Q | T T T L E Q A I K S A H E C Y p.260
. . . . . . g.65025
GACGATGAGATTCAGCTTTATAACGAGCAGATTGAGACACTGCGCAAGGAGATTGAGGAG c.840
D D E I Q L Y N E Q I E T L R K E I E E p.280
. . . . . . g.65085
ACAGAGCGGGTCCTGGAGAAGTCTTCTTACGACTGCCGGCAGCTGGCGGTCGCCCAGCAA c.900
T E R V L E K S S Y D C R Q L A V A Q Q p.300
. . . . . | 07 . g.66941
ACCCTGAAGAATGAGCTGGACCGGTATCATCGTATCATCGAGATTGAAGGCAACAG | GCTG c.960
T L K N E L D R Y H R I I E I E G N R | L p.320
. . . . . . g.67001
ACCTCTGCCTTCATTGAAACTCCCATTCCCCTGTTCACCCAGAGCCATGGAGTCTCTCTC c.1020
T S A F I E T P I P L F T Q S H G V S L p.340
. . | 08 . . . . g.68969
AGCACTGGATCCGGTGGGAAAG | ATCTTACCAGAGCTCTGCAGGATATAACAGCAGCAAAA c.1080
S T G S G G K D | L T R A L Q D I T A A K p.360
. . . . . . g.69029
CCAAGACAAAAAGCCCTCCCCAAGAATGTTCCAAGGAGAAAAGAGATTATAACAAAAGAC c.1140
P R Q K A L P K N V P R R K E I I T K D p.380
. . . . . . g.69089
AAAACCAACGGAGCTCTGGAAGATGCACCATTAAAAGGTTTGGAAGACACAAAGCTGGTA c.1200
K T N G A L E D A P L K G L E D T K L V p.400
. . . . . . g.69149
CAGGTGGTACTTAAAGAGGAAAGTGAATCTAAGTTTGAATCAGAAAGTAAAGAAGTAAGT c.1260
Q V V L K E E S E S K F E S E S K E V S p.420
. . . . . . g.69209
CCCCTGACACAAGAAGGGGCTCCAGAGGATGTGCCAGATGGAGGGCAGATAAGCAAAGGC c.1320
P L T Q E G A P E D V P D G G Q I S K G p.440
. . . . . . g.69269
TTTGGGAAACTATACAGGAAGGTCAAGGAGAAAGTGAGAAGCCCCAAAGAGCCTGAGACC c.1380
F G K L Y R K V K E K V R S P K E P E T p.460
. . . . . . g.69329
CCCACTGAGCTCTACACCAAAGAGCGGCACGTGCTGGTCACAGGGGATGCCAATTACGTG c.1440
P T E L Y T K E R H V L V T G D A N Y V p.480
. . . . . . g.69389
GACCCTAGATTCTATGTCTCCTCCATCACAGCTAAAGGTGGGGTGGCTGTTTCTGTTGCG c.1500
D P R F Y V S S I T A K G G V A V S V A p.500
. . . . . . g.69449
GAAGACTCTGTGCTTTATGACGGCCAGGTGGAGCCCTCTCCTGAGTCACCCAAGCCCCCT c.1560
E D S V L Y D G Q V E P S P E S P K P P p.520
. . . . . . g.69509
TTAGAGAATGGGCAGGTGGGTCTGCAGGAGAAAGAAGATGGACAACCAATTGACCAGCAG c.1620
L E N G Q V G L Q E K E D G Q P I D Q Q p.540
. . . . . . g.69569
CCTATAGACAAGGAGATTGAGCCAGATGGTGCAGAGCTGGAAGGCCCTGAAGAGAAACGT c.1680
P I D K E I E P D G A E L E G P E E K R p.560
. . . . . . g.69629
GAGGGTGAGGAGCGGGACGAAGAGTCCAGGAGACCCTGTGCCATGGTCACACCCGGTGCA c.1740
E G E E R D E E S R R P C A M V T P G A p.580
. . . . . . g.69689
GAGGAACCATCTATACCTGAGCCTCCAAAGCCTGCGGCTGATCAGGATGGAGCTGAGGTG c.1800
E E P S I P E P P K P A A D Q D G A E V p.600
. . . . . . g.69749
CTTGGGACTAGGAGCAGAAGCCTGCCAGAAAAAGGCCCTCCCAAGGCTTTGGCCTATAAG c.1860
L G T R S R S L P E K G P P K A L A Y K p.620
. . . . . . g.69809
ACAGTGGAAGTGGTGGAATCTATCGAGAAGATTTCCACGGAGAGCATTCAGACATATGAA c.1920
T V E V V E S I E K I S T E S I Q T Y E p.640
. . . . . . g.69869
GAAACCGCTGTGATCGTGGAGACCATGATTGGAAAGACAAAGTCAGACAAGAAGAAATCA c.1980
E T A V I V E T M I G K T K S D K K K S p.660
. g.69887
GGAGAGAAGAGCTCTTAA c.1998
G E K S S X p.665
. . . . . . g.69947
aatgcccaggcttgatgggataaaatgtatttggggccactgtaggggtaatgctttgat c.*60
. . . . . . g.70007
attttagagcaaatgataaaagggtgagggttcctgtttggattagaccatagttgaccc c.*120
. . . . g.70056
atctggcattgccaacgaagccttcattaaaatgttttctttgcttgca c.*169
(downstream sequence)
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