Variant position: 267 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 437 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 WTNDRFWRKTRSRNSRFRCR GVDANRNWKVKWCDEGASMHP
Mouse WTHDRFWRKTRSRDSKFRCR GVDANRNWKVKWCDEGASAHP
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.
Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy.
Salzmann A.; Guipponi M.; Lyons P.J.; Fricker L.D.; Sapio M.; Lambercy C.; Buresi C.; Bencheikh B.O.; Lahjouji F.; Ouazzani R.; Crespel A.; Chaigne D.; Malafosse A.;
Hum. Mutat. 33:124-135(2012)
Cited for: TISSUE SPECIFICITY; VARIANT ETL5 ARG-267; VARIANT FEB11 VAL-270; CHARACTERIZATION OF VARIANT ETL5 ARG-267; CHARACTERIZATION OF VARIANT FEB11 VAL-270;
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.