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UniProtKB/Swiss-Prot O00522: Variant p.Phe97Ser

Krev interaction trapped protein 1
Gene: KRIT1
Variant information

Variant position:  97
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Phenylalanine (F) to Serine (S) at position 97 (F97S, p.Phe97Ser).
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 large size and aromatic (F) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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

Involvement in disease:  Cerebral cavernous malformations 1 (CCM1) [MIM:116860]: A congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters. {ECO:0000269|PubMed:12172908}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In CCM1.
Any additional useful information about the variant.



Sequence information

Variant position:  97
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  736
The length of the canonical sequence.

Location on the sequence:   KPISPANQGIRGKRVVLMKK  F PLDGEKMGREASLFIVPSVV
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                         KPISPANQGIRGKRVVLMKKFPLDGEKMGREASLFIVPSVV

Mouse                         KPISPANQGIKGKRVVLMRKFPLDGEKTGREAALFIVPSVV

Bovine                        EPISPANQGIRGKRVVLMKTFPLEGEKVGREAALFIVPSVV

Zebrafish                     KPIS-NNQGIIGKRVVHMRKFLLDGDSGGKEASLFIVPINV

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.

TypePositionsDescription
Chain 1 – 736 Krev interaction trapped protein 1
Region 1 – 170 N-terminal domain similar to Nudix hydrolase domain
Alternative sequence 1 – 207 Missing. In isoform 2.
Beta strand 92 – 98


Literature citations

Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1).
Kehrer-Sawatzki H.; Wilda M.; Braun V.M.; Richter H.-P.; Hameister H.;
Acta Neuropathol. 104:231-240(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); ALTERNATIVE SPLICING; VARIANTS CCM1 SER-97 AND GLU-569;

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.