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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 721

CCAGCGGATGGTGGATTTCGCTGGC G TGAAGGACAAGGTCACCCTTGTGGT
CCAGCGGATGGTGGATTTCGCTGGC A TGAAGGACAAGGTCACCCTTGTGGT

View original variant in UCSC Genome Browser

Description relative to transcription start

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

NM_000754.3:n.721G>A

Affected transcripts - 1

Affected proteins - 1

NM_000754.3(COMT_i001):p.(Val158Met)

Reference protein

  1  MPEAPPLLLA AVLLGLVLLV VLLLLLRHWG WGLCLIGWNE FILQPIHNLL MGDTKEQRIL
61 NHVLQHAEPG NAQSVLEAID TYCEQKEWAM NVGDKKGKIV DAVIQEHQPS VLLELGAYCG
121 YSAVRMARLL SPGARLITIE INPDCAAITQ RMVDFAGVKD KVTLVVGASQ DIIPQLKKKY
181 DVDTLDMVFL DHWKDRYLPD TLLLEECGLL RKGTVLLADN VICPGAPDFL AHVRGSSCFE
241 CTHYQSFLEY REVVDGLEKA IYKGPGSEAG P*

Protein predicted from variant coding sequence

  1  MPEAPPLLLA AVLLGLVLLV VLLLLLRHWG WGLCLIGWNE FILQPIHNLL MGDTKEQRIL
61 NHVLQHAEPG NAQSVLEAID TYCEQKEWAM NVGDKKGKIV DAVIQEHQPS VLLELGAYCG
121 YSAVRMARLL SPGARLITIE INPDCAAITQ RMVDFAGMKD KVTLVVGASQ DIIPQLKKKY
181 DVDTLDMVFL DHWKDRYLPD TLLLEECGLL RKGTVLLADN VICPGAPDFL AHVRGSSCFE
241 CTHYQSFLEY REVVDGLEKA IYKGPGSEAG P*

Effects on Restriction sites

Raw variant Created Deleted
1 CviAII, FatI, NlaIII

Experimental services

Genomic description: 721G>A

Exon information

Number Start (g.) Stop (g.) Start (c.) Stop (c.)
1 1 158 -249 -92
2 159 249 -91 -1
3 250 538 1 289
4 539 732 290 483
5 733 864 484 615
6 865 2304 616 *1239

CDS information

g. c.
Start 250 1
Stop 1065 816

Links

Download this reference sequence file: NM_000754.3.gb


Name ID Locus tag Product Link method
COMT_v001 NM_000754.3 exhaustion
COMT_i001 NP_000745.1 catechol O-methyltransferase isoform MB-COMT exhaustion

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