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Name Checker

Please insert a variant description using the HGVS format.

Examples: AB026906.1:c.40_42del, NG_012337.1(SDHD_v001):c.274G>T, LRG_24t1:c.159dup


0 Errors, 0 Warnings.


Overview of the raw variants

Raw variant 1: substitution at 1791

CATGACAAGTCTCTGAATAAGAAGT C AGGCTGAAACTGGGCGAATCTACAG
CATGACAAGTCTCTGAATAAGAAGT G AGGCTGAAACTGGGCGAATCTACAG

View original variant in UCSC Genome Browser

Description relative to transcription start

(Not for use in LSDBs in case of protein-coding transcripts).

NM_000237.2:n.1791C>G

Affected transcripts - 1

Affected proteins - 1

NM_000237.2(LPL_i001):p.(Ser474*)

Reference protein

  1  MESKALLVLT LAVWLQSLTA SRGGVAAADQ RRDFIDIESK FALRTPEDTA EDTCHLIPGV
61 AESVATCHFN HSSKTFMVIH GWTVTGMYES WVPKLVAALY KREPDSNVIV VDWLSRAQEH
121 YPVSAGYTKL VGQDVARFIN WMEEEFNYPL DNVHLLGYSL GAHAAGIAGS LTNKKVNRIT
181 GLDPAGPNFE YAEAPSRLSP DDADFVDVLH TFTRGSPGRS IGIQKPVGHV DIYPNGGTFQ
241 PGCNIGEAIR VIAERGLGDV DQLVKCSHER SIHLFIDSLL NEENPSKAYR CSSKEAFEKG
301 LCLSCRKNRC NNLGYEINKV RAKRSSKMYL KTRSQMPYKV FHYQVKIHFS GTESETHTNQ
361 AFEISLYGTV AESENIPFTL PEVSTNKTYS FLIYTEVDIG ELLMLKLKWK SDSYFSWSDW
421 WSSPGFAIQK IRVKAGETQK KVIFCSREKV SHLQKGKAPA VFVKCHDKSL NKKSG*

Protein predicted from variant coding sequence

  1  MESKALLVLT LAVWLQSLTA SRGGVAAADQ RRDFIDIESK FALRTPEDTA EDTCHLIPGV
61 AESVATCHFN HSSKTFMVIH GWTVTGMYES WVPKLVAALY KREPDSNVIV VDWLSRAQEH
121 YPVSAGYTKL VGQDVARFIN WMEEEFNYPL DNVHLLGYSL GAHAAGIAGS LTNKKVNRIT
181 GLDPAGPNFE YAEAPSRLSP DDADFVDVLH TFTRGSPGRS IGIQKPVGHV DIYPNGGTFQ
241 PGCNIGEAIR VIAERGLGDV DQLVKCSHER SIHLFIDSLL NEENPSKAYR CSSKEAFEKG
301 LCLSCRKNRC NNLGYEINKV RAKRSSKMYL KTRSQMPYKV FHYQVKIHFS GTESETHTNQ
361 AFEISLYGTV AESENIPFTL PEVSTNKTYS FLIYTEVDIG ELLMLKLKWK SDSYFSWSDW
421 WSSPGFAIQK IRVKAGETQK KVIFCSREKV SHLQKGKAPA VFVKCHDKSL NKK*

Effects on Restriction sites

Raw variant Created Deleted
1 MnlI

Experimental services

Genomic description: 1791C>G

Exon information

Number Start (g.) Stop (g.) Start (c.) Stop (c.)
1 1 458 -370 88
2 459 619 89 249
3 620 799 250 429
4 800 911 430 541
5 912 1145 542 775
6 1146 1388 776 1018
7 1389 1509 1019 1139
8 1510 1692 1140 1322
9 1693 1797 1323 1427
10 1798 3747 1428 *1949

CDS information

g. c.
Start 371 1
Stop 1798 1428

Links

Download this reference sequence file: NM_000237.2.gb


Name ID Locus tag Product Link method
LPL_v001 NM_000237.2 exhaustion
LPL_i001 NP_000228.1 lipoprotein lipase precursor exhaustion

Link methods priorities order: protein (NCBI), locus tag, product tag, exhaustion, and construction.