UniProtKB/Swiss-Prot P17813: Variant p.Ala150Pro

Endoglin
Gene: ENG
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Variant information Variant position:

150 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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:

From Alanine (A) to Proline (P) at position 150 (A150P, p.Ala150Pro). 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:

Change from small size and hydrophobic (A) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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:

Found in a family with hereditary hemorrhagic talagiectasia; uncertain significance. Any additional useful information about the variant.

Sequence information Variant position:

150 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:

PPGVNTTELPSFPKTQILEW A AERGPITSAAELNDPQSILL 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                         PPG-VNTTELPSF-PKTQILEWAAER-GPITSAAELNDPQSILL

Mouse                         QPR-VNITVLPSLTSRKQILDWAATK-GAITSIAALDDPQS

Pig                           APK-AVITELPPSTTKNQLFLWANTK-GSIISAAELDNPQS

Zebrafish                     TQKPLQILTAPPAGNVSAVLRWAAETFGGVTSVTNARNPKT

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
Chain	26 – 658	Endoglin
Topological domain	26 – 586	Extracellular
Region	26 – 337	Required for interaction with GDF2
Region	47 – 199	OR2
Glycosylation	134 – 134	N-linked (GlcNAc...) asparagine
Disulfide bond	30 – 207
Disulfide bond	53 – 182
Helix	143 – 151

Literature citations
Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.
Richards-Yutz J.; Grant K.; Chao E.C.; Walther S.E.; Ganguly A.;
Hum. Genet. 128:61-77(2010)
Cited for: VARIANTS PRO-150; PRO-205; MET-236; MET-315; GLU-374; ARG-414; SER-545; TYR-549 AND ALA-561; VARIANTS HHT1 GLN-221; GLU-238; SER-263; ARG-269; TYR-394; PRO-529 AND ARG-603;

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.