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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P37023: Variant p.Cys34Tyr

Activin receptor type-1-like
Gene: ACVRL1
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Variant information Variant position: help 34 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Cysteine (C) to Tyrosine (Y) at position 34 (C34Y, p.Cys34Tyr). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and polar (C) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In HHT2. Any additional useful information about the variant.


Sequence information Variant position: help 34 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 503 The length of the canonical sequence.
Location on the sequence: help LMALVTQGDPVKPSRGPLVT C TCESPHCKGPTCRGAWCTVV 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LMAL-VTQGDPVKPSRGPLVTCTCESPHCKGPTCRGAWCTVV

Mouse                         SVAFGLTRGDLAKPSK--LVNCTCESPHCKRPFCQGSWCTV

Rat                           SVALGLTKGDLVKPSRGQLVNCTCENPHCKRPICQGAWCTV
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 22 – 503 Activin receptor type-1-like
Topological domain 22 – 118 Extracellular
Disulfide bond 34 – 51
Beta strand 32 – 35



Literature citations
Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2.
Abdalla S.A.; Pece-Barbara N.; Vera S.; Tapia E.; Paez E.; Bernabeu C.; Letarte M.;
Hum. Mol. Genet. 9:1227-1237(2000)
Cited for: VARIANTS HHT2 48-GLY-ALA-49 DELINS GLU-PRO; CYS-50; SER-232 DEL; ILE-333; TYR-344 AND ASP-407; Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia.
Harrison R.E.; Flanagan J.A.; Sankelo M.; Abdalla S.A.; Rowell J.; Machado R.D.; Elliott C.G.; Robbins I.M.; Olschewski H.; McLaughlin V.; Gruenig E.; Kermeen F.; Halme M.; Raeisaenen-Sokolowski A.; Laitinen T.; Morrell N.W.; Trembath R.C.;
J. Med. Genet. 40:865-871(2003)
Cited for: VARIANTS HHT2 ALA-179; ASP-211; TYR-344; TRP-374; GLN-374; SER-399; GLN-411 AND THR-487; CHARACTERIZATION OF VARIANTS HHT2 CYS-50; GLN-67; TRP-77; ALA-179; ASP-211; SER-232 DEL; ASP-254 DEL; ILE-333; TYR-344; GLN-374; LEU-378; GLN-411 AND THR-487; 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: VARIANT SER-30; VARIANTS HHT2 TYR-34; ALA-52; ILE-197; ASP-219; LYS-237; LEU-260; PRO-289; ARG-344; CYS-426 AND ARG-433;
Disclaimer: 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.