UniProtKB/Swiss-Prot P82279: Variant p.Phe144Val

Protein crumbs homolog 1
Gene: CRB1
Chromosomal location: 1q31-q32.1
Variant information

Variant position:  144
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 have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Phenylalanine (F) to Valine (V) at position 144 (F144V, p.Phe144Val).
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 medium size and hydrophobic (V)
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:  In LCA8.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  144
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1406
The length of the canonical sequence.

Location on the sequence:   ICHQDPIYPVCICPAGYAGR  F CEIDHDECASSPCQNGAVCQ
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                         ICHQDPIYPVCICPAGYAGRFCEIDHDECASSPCQNGAVCQ

Mouse                         TCRKDPEHPVCICPPGYAGRFCETDHNECASSPCHNGAMCQ

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 26 – 1406 Protein crumbs homolog 1
Topological domain 26 – 1347 Extracellular
Domain 110 – 146 EGF-like 3
Disulfide bond 136 – 145
Alternative sequence 1 – 351 Missing. In isoform 4.


Literature citations

Mutations in the CRB1 gene cause Leber congenital amaurosis.
Lotery A.J.; Jacobson S.G.; Fishman G.A.; Weleber R.G.; Fulton A.B.; Namperumalsamy P.; Heon E.; Levin A.V.; Grover S.; Rosenow J.R.; Kopp K.K.; Sheffield V.C.; Stone E.M.;
Arch. Ophthalmol. 119:415-420(2001)
Cited for: VARIANTS LCA8 VAL-144; TYR-383; GLY-480; ARG-480; TYR-681; CYS-764; TYR-948; ARG-1205 AND HIS-1317; VARIANTS MET-289; GLN-769 AND HIS-1331;

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.