Variant position: 1854 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2102 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 TQEADGQKISWQAAIFKVGD DCRQDMLALQIIDLFKNIFQL
Mouse SQEADGKKICWQAAIFKVGD DCRQDMLALQIIDLFKNIFQL
Rat RQEADGKKICWQAAIFKVGD DCRQDMLALQIIDLFKNIFQL
Bovine MQEADGQKISWQAAIFKVGD DCRQDMLALQIIDLFKNIFQL
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 – 2102 Phosphatidylinositol 4-kinase alpha
1846 – 2079 PI3K/PI4K
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Pagnamenta A.T.; Howard M.F.; Wisniewski E.; Popitsch N.; Knight S.J.; Keays D.A.; Quaghebeur G.; Cox H.; Cox P.; Balla T.; Taylor J.C.; Kini U.;
Hum. Mol. Genet. 24:3732-3741(2015)
Cited for: INVOLVEMENT IN PMGYCHA; VARIANT PMGYCHA ASN-1854; CHARACTERIZATION OF VARIANT PMGYCHA ASN-1854;
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.