Variant position: 46 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 892 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 DPAWEKQQRKTFTAWCNSHL RKAGTQIENIEEDFRDGLKLM
Mouse DPAWEKQQRKTFTAWCNSHL RKAGTQIENIEEDFRDGLKLM
Rat DPAWEKQQRKTFTAWCNSHL RKAGTQIENIEEDFRDGLKLM
Bovine DPAWEKQQRKTFTAWCNSHL RKAGTQIENIEEDFRDGLKLM
Chicken DPAWEKQQRKTFTAWCNSHL RKAGTQIENIEEDFRDGLKLM
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.
ACTN1 mutations cause congenital macrothrombocytopenia.
Kunishima S.; Okuno Y.; Yoshida K.; Shiraishi Y.; Sanada M.; Muramatsu H.; Chiba K.; Tanaka H.; Miyazaki K.; Sakai M.; Ohtake M.; Kobayashi R.; Iguchi A.; Niimi G.; Otsu M.; Takahashi Y.; Miyano S.; Saito H.; Kojima S.; Ogawa S.;
Am. J. Hum. Genet. 92:431-438(2013)
Cited for: VARIANTS BDPLT15 LYS-32; GLN-46; ILE-105; LYS-225; TRP-738 AND GLN-752; VARIANT TRP-197; CHARACTERIZATION OF VARIANTS BDPLT15 LYS-32 AND ILE-105;
A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family.
Gueguen P.; Rouault K.; Chen J.M.; Raguenes O.; Fichou Y.; Hardy E.; Gobin E.; Pan-Petesch B.; Kerbiriou M.; Trouve P.; Marcorelles P.; Abgrall J.F.; Le Marechal C.; Ferec C.;
PLoS ONE 8:E74728-E74728(2013)
Cited for: VARIANT BDPLT15 GLN-46; CHARACTERIZATION OF VARIANT BDPLT15 GLN-46; SUBCELLULAR LOCATION;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.