Variant position: 313 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 503 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 TLEPHLALRLAVSAACGLAH LHVEIFGTQGKPAIAHRDFKS
Mouse TLEPQLALRLAVSAACGLAH LHVEIFGTQGKPAIAHRDLKS
Rat TLEPQLALRLAVSAACGLAH LHVEIFGTQGKPAIAHRDLKS
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.
Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by hereditary hemorrhagic telangiectasia.
Alaa El Din F.; Patri S.; Thoreau V.; Rodriguez-Ballesteros M.; Hamade E.; Bailly S.; Gilbert-Dussardier B.; Abou Merhi R.; Kitzis A.;
PLoS ONE 10:E0132111-E0132111(2015)
Cited for: VARIANTS HHT2 GLY-41; TYR-41; GLY-46; PRO-47; TYR-66; PHE-77; ASP-211; SER-211; VAL-245; PRO-306; VAL-313; TYR-314; SER-378; ASP-379; LYS-379; GLY-404; TRP-411; MET-441 AND TYR-443; VARIANTS ASP-111 AND PHE-417; CHARACTERIZATION OF VARIANTS HHT2 GLY-41; TYR-41; GLY-46; PRO-47; TYR-66; PHE-77; ASP-211; SER-211; VAL-245; PRO-306; VAL-313; TYR-314; SER-378; ASP-379; LYS-379; GLY-404; TRP-411; MET-441 AND TYR-443; CHARACTERIZATION OF VARIANTS ASP-111 AND PHE-417; FUNCTION; 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.