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Please insert a variant description using the HGVS format.
0 Errors, 0 Warnings.
Raw variant 1: substitution at 2182
TCCTGCTGCCATGCCCCAGGTCTGG A ATGCAAAGTCAAGGAGCATGGAATC
TCCTGCTGCCATGCCCCAGGTCTGG C ATGCAAAGTCAAGGAGCATGGAATC
View original variant in UCSC Genome Browser
(Not for use in LSDBs in case of protein-coding transcripts).
NM_174936.3(PCSK9_i001):p.(Glu607Ala)
1 MGTVSSRRSW WPLPLLLLLL LLLGPAGARA QEDEDGDYEE LVLALRSEED GLAEAPEHGT
61 TATFHRCAKD PWRLPGTYVV VLKEETHLSQ SERTARRLQA QAARRGYLTK ILHVFHGLLP
121 GFLVKMSGDL LELALKLPHV DYIEEDSSVF AQSIPWNLER ITPPRYRADE YQPPDGGSLV
181 EVYLLDTSIQ SDHREIEGRV MVTDFENVPE EDGTRFHRQA SKCDSHGTHL AGVVSGRDAG
241 VAKGASMRSL RVLNCQGKGT VSGTLIGLEF IRKSQLVQPV GPLVVLLPLA GGYSRVLNAA
301 CQRLARAGVV LVTAAGNFRD DACLYSPASA PEVITVGATN AQDQPVTLGT LGTNFGRCVD
361 LFAPGEDIIG ASSDCSTCFV SQSGTSQAAA HVAGIAAMML SAEPELTLAE LRQRLIHFSA
421 KDVINEAWFP EDQRVLTPNL VAALPPSTHG AGWQLFCRTV WSAHSGPTRM ATAVARCAPD
481 EELLSCSSFS RSGKRRGERM EAQGGKLVCR AHNAFGGEGV YAIARCCLLP QANCSVHTAP
541 PAEASMGTRV HCHQQGHVLT GCSSHWEVED LGTHKPPVLR PRGQPNQCVG HREASIHASC
601 CHAPGLECKV KEHGIPAPQE QVTVACEEGW TLTGCSALPG TSHVLGAYAV DNTCVVRSRD
661 VSTTGSTSEG AVTAVAICCR SRHLAQASQE LQ*
1 MGTVSSRRSW WPLPLLLLLL LLLGPAGARA QEDEDGDYEE LVLALRSEED GLAEAPEHGT
61 TATFHRCAKD PWRLPGTYVV VLKEETHLSQ SERTARRLQA QAARRGYLTK ILHVFHGLLP
121 GFLVKMSGDL LELALKLPHV DYIEEDSSVF AQSIPWNLER ITPPRYRADE YQPPDGGSLV
181 EVYLLDTSIQ SDHREIEGRV MVTDFENVPE EDGTRFHRQA SKCDSHGTHL AGVVSGRDAG
241 VAKGASMRSL RVLNCQGKGT VSGTLIGLEF IRKSQLVQPV GPLVVLLPLA GGYSRVLNAA
301 CQRLARAGVV LVTAAGNFRD DACLYSPASA PEVITVGATN AQDQPVTLGT LGTNFGRCVD
361 LFAPGEDIIG ASSDCSTCFV SQSGTSQAAA HVAGIAAMML SAEPELTLAE LRQRLIHFSA
421 KDVINEAWFP EDQRVLTPNL VAALPPSTHG AGWQLFCRTV WSAHSGPTRM ATAVARCAPD
481 EELLSCSSFS RSGKRRGERM EAQGGKLVCR AHNAFGGEGV YAIARCCLLP QANCSVHTAP
541 PAEASMGTRV HCHQQGHVLT GCSSHWEVED LGTHKPPVLR PRGQPNQCVG HREASIHASC
601 CHAPGLACKV KEHGIPAPQE QVTVACEEGW TLTGCSALPG TSHVLGAYAV DNTCVVRSRD
661 VSTTGSTSEG AVTAVAICCR SRHLAQASQE LQ*
Raw variant | Created | Deleted |
---|---|---|
1 | Cac8I, NspI, SphI | BsmI, Hpy188III |
Genomic description: 2182A>C
Number | Start (g.) | Stop (g.) | Start (c.) | Stop (c.) |
---|---|---|---|---|
1 | 1 | 569 | -362 | 207 |
2 | 570 | 761 | 208 | 399 |
3 | 762 | 885 | 400 | 523 |
4 | 886 | 1019 | 524 | 657 |
5 | 1020 | 1161 | 658 | 799 |
6 | 1162 | 1358 | 800 | 996 |
7 | 1359 | 1542 | 997 | 1180 |
8 | 1543 | 1716 | 1181 | 1354 |
9 | 1717 | 1865 | 1355 | 1503 |
10 | 1866 | 2043 | 1504 | 1681 |
11 | 2044 | 2225 | 1682 | 1863 |
12 | 2226 | 3710 | 1864 | *1269 |
g. | c. | |
---|---|---|
Start | 363 | 1 |
Stop | 2441 | 2079 |
Download this reference sequence file: NM_174936.3.gb
Name | ID | Locus tag | Product | Link method |
---|---|---|---|---|
PCSK9_v001 | NM_174936.3 | exhaustion | ||
PCSK9_i001 | NP_777596.2 | proprotein convertase subtilisin/kexin type 9 preproprotein | exhaustion |
Link methods priorities order: protein (NCBI), locus tag, product tag, exhaustion, and construction.