(used for variant description)
(last modified November 11, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_003571.2 in the BFSP2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering BFSP2 transcript NM_003571.2.
(upstream sequence)
. g.5018
agacagcagacaaagcag c.-121
. . . . . . g.5078
ccccagggataggggagattccagagaggcccgtgaccaggccacagggatgctggggct c.-61
. . . . . . g.5138
gtaaaccaaaagccactggactctgtaaacccactgggcaccacagaggcagaaggggtg c.-1
. . . . . . g.5198
ATGAGTGAGAGGCGAGTGGTAGTGGACTTGCCCACCAGTGCCAGCTCCAGCATGCCCCTC c.60
M S E R R V V V D L P T S A S S S M P L p.20
. . . . . . g.5258
CAGAGGCGCAGGGCGTCCTTCAGGGGGCCACGGTCATCATCCTCCCTGGAGAGCCCCCCA c.120
Q R R R A S F R G P R S S S S L E S P P p.40
. . . . . . g.5318
GCCTCCAGGACCAATGCCATGAGTGGCCTTGTCCGAGCACCCGGGGTCTATGTAGGAACA c.180
A S R T N A M S G L V R A P G V Y V G T p.60
. . . . . . g.5378
GCACCCAGTGGGTGCATAGGTGGCTTGGGTGCCCGTGTGACCCGCCGGGCCCTCGGCATC c.240
A P S G C I G G L G A R V T R R A L G I p.80
. . . . . . g.5438
AGCAGTGTCTTCCTTCAGGGCCTGCGGAGCTCAGGCCTGGCCACCGTGCCGGCTCCAGGT c.300
S S V F L Q G L R S S G L A T V P A P G p.100
. . . . . . g.5498
TTGGAGAGGGACCATGGTGCTGTTGAGGACCTAGGGGGCTGCCTGGTGGAATATATGGCC c.360
L E R D H G A V E D L G G C L V E Y M A p.120
. . . . . . g.5558
AAAGTGCACGCCCTTGAGCAAGTCAGTCAGGAGCTGGAAACACAACTGCGGATGCACCTG c.420
K V H A L E Q V S Q E L E T Q L R M H L p.140
. . . . . . g.5618
GAGAGCAAAGCCACACGCTCGGGAAACTGGGGTGCCCTACGGGCTTCCTGGGCCAGCAGC c.480
E S K A T R S G N W G A L R A S W A S S p.160
| 02 . . . . . g.52422
TGCCAGCAG | GTGGGTGAGGCAGTCTTGGAAAATGCCCGGCTCATGCTGCAGACAGAAACT c.540
C Q Q | V G E A V L E N A R L M L Q T E T p.180
. . . | 03 . . . g.53571
ATCCAGGCCGGAGCAGATGACTTTAAAGAGAG | ATATGAAAATGAGCAGCCATTTCGAAAG c.600
I Q A G A D D F K E R | Y E N E Q P F R K p.200
. . . . . . g.53631
GCGGCAGAAGAGGAAATTAACTCTCTGTATAAAGTCATTGATGAGGCTAATTTGACTAAA c.660
A A E E E I N S L Y K V I D E A N L T K p.220
. . . . . . g.53691
ATGGACCTGGAGAGTCAAATAGAAAGTCTGAAAGAAGAACTTGGCTCTCTATCAAGAAAC c.720
M D L E S Q I E S L K E E L G S L S R N p.240
| 04 . . . . . g.55408
TATGAAGAG | GATGTGAAGCTGCTGCACAAACAGTTGGCAGGGTGTGAGCTGGAACAAATG c.780
Y E E | D V K L L H K Q L A G C E L E Q M p.260
. . . . . . g.55468
GATGCTCCCATTGGCACTGGTCTGGACGACATCCTTGAGACGATCAGAATTCAGTGGGAG c.840
D A P I G T G L D D I L E T I R I Q W E p.280
. . . . . | 05 . g.71891
AGAGATGTTGAAAAGAACCGGGTGGAGGCAGGAGCCCTGCTCCAAGCTAAG | CAACAGGCG c.900
R D V E K N R V E A G A L L Q A K | Q Q A p.300
. . . . . . g.71951
GAGGTGGCCCACATGTCCCAGACCCAGGAGGAGAAGCTGGCAGCTGCCCTCAGGGTGGAG c.960
E V A H M S Q T Q E E K L A A A L R V E p.320
. . . . . . g.72011
TTACACAACACTTCGTGCCAAGTCCAGAGCCTCCAGGCTGAGACAGAATCCTTACGTGCC c.1020
L H N T S C Q V Q S L Q A E T E S L R A p.340
| 06 . . . . . . g.77456
CTG | AAACGAGGCCTGGAGAACACCTTGCACGATGCCAAGCACTGGCATGACATGGAGCTC c.1080
L | K R G L E N T L H D A K H W H D M E L p.360
. . . . . . g.77516
CAGAACCTGGGCGCTGTGGTCGGCCGGCTGGAGGCGGAGCTCAGGGAAATCCGAGCGGAG c.1140
Q N L G A V V G R L E A E L R E I R A E p.380
. . . . . . g.77576
GCGGAGCAGCAGCAACAGGAGCGCGCGCATCTGCTGGCCCGCAAGTGCCAGCTGCAGAAG c.1200
A E Q Q Q Q E R A H L L A R K C Q L Q K p.400
. . . . | 07 g.80039
GACGTGGCGTCCTACCACGCCCTGCTGGACAGGGAGGAGAGCGG | CTGA c.1248
D V A S Y H A L L D R E E S G | X p.415
. . . . . . g.80099
tggagaaacttcctctttttcatgaagaaaacacccttcctcaacagctgacccaagaag c.*60
. . . . . . g.80159
ttgcttgaggagctttctcctgagctccagtccctgctggattccctggttaattcagct c.*120
. . . . . . g.80219
tgagctgaaaagcttcctggaagtggagaggatccttctgctttaatctgagtagtctgt c.*180
. . . . . . g.80279
agcttgagcaatctcccttgtcctccttcaaataaatgctttgtgcgcagcgtccagttt c.*240
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 29
©2004-2023 Leiden University Medical Center