Variant position: 122 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 375 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human PVLLTEAPLNPKANREKMTQ IMFETFNTPAMYVAIQAVLSL
Mouse PVLLTEAPLNPKANREKMTQ IMFETFNTPAMYVAIQAVLSL
Rat PVLLTEAPLNPKANREKMTQ IMFETFNTPAMYVAIQAVLSL
Bovine PVLLTEAPLNPKANREKMTQ IMFETFNTPAMYVAIQAVLSL
Chicken PVLLTEAPLNPKANREKMTQ IMFETFNTPAMYVAIQAVLSL
Xenopus laevis PVLLTEAPLNPKANREKMTQ IMFETFNTPAMYVAIQAVLSL
Xenopus tropicalis PVLLTEAPLNPKANREKMTQ IMFETFNTPAMYVAIQAVLSL
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 375 Actin, cytoplasmic 2
2 – 375 Actin, cytoplasmic 2, N-terminally processed
Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family.
Liu P.; Li H.; Ren X.; Mao H.; Zhu Q.; Zhu Z.; Yang R.; Yuan W.; Liu J.; Wang Q.; Liu M.;
J. Genet. Genomics 35:553-558(2008)
Cited for: VARIANT DFNA20 VAL-122;
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