Variant position: 105 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 658 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 SKQNGTWPREVLLVLSVNSS VFLHLQALGIPLHLAYNSSLV
Mouse SKQNGTETQEVFLVLVSNKN VFVKFQAPEIPLHLAYDSSLV
Pig TNPNGARPQEVLLILSVNKN IHLTLQVPEIPLHLAYDSKLV
Zebrafish ANKS----VVIFTSSSAQSS HAMLFDNPAVSIYVTNKTSLT
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.
Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.
Bossler A.D.; Richards J.; George C.; Godmilow L.; Ganguly A.;
Hum. Mutat. 27:667-675(2006)
Cited for: VARIANTS HHT1 ASP-11; ASP-105; GLU-175; THR-220; ASP-308; SER-363; TRP-437; SER-490; HIS-529; PRO-547 AND ASP-604;
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.