Variant position: 238 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 372 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 AWVSHDSTVCLADADKKMAV ATLASETLPLLALTFITDNSL
Mouse AWVSHDSTVCLVDADKKMAV ATLASETLPLLAVTFITENSL
Rat AWVSHDSTVCLVDAEKKMAV ATLASETLPLLAITFITENSL
Bovine AWVSHDSTVCLADADKKMAV ATLASETLPLLAVTFITESSL
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
2 – 372 Actin-related protein 2/3 complex subunit 1B
Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease.
Kahr W.H.; Pluthero F.G.; Elkadri A.; Warner N.; Drobac M.; Chen C.H.; Lo R.W.; Li L.; Li R.; Li Q.; Thoeni C.; Pan J.; Leung G.; Lara-Corrales I.; Murchie R.; Cutz E.; Laxer R.M.; Upton J.; Roifman C.M.; Yeung R.S.; Brumell J.H.; Muise A.M.;
Nat. Commun. 8:14816-14816(2017)
Cited for: INVOLVEMENT IN PLTEID; VARIANTS PLTEID VAL-105 AND THR-238;
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.