UniProtKB/Swiss-Prot P02489: Variant p.Phe71Leu

Alpha-crystallin A chain
Gene: CRYAA
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Variant information Variant position:

71 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 Phenylalanine (F) to Leucine (L) at position 71 (F71L, p.Phe71Leu). 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 (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 CTRCT9; uncertain significance; reduced chaperone-like activity in vitro. Any additional useful information about the variant.

Sequence information Variant position:

71 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

173 The length of the canonical sequence.
Location on the sequence:

SLFRTVLDSGISEVRSDRDK F VIFLDVKHFSPEDLTVKVQD 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                         SLFRTVLDSGISE-----------------------VRSDRDKFVIFLDVKHFSPEDLTVKVQD

                              SLFRTVLDSGISE-----------------------VRSDR

Rhesus macaque                SLFRTVLDSGISE-----------------------VRSDR

Mouse                         SLFRTVLDSGISELMTHMWFVMHQPHAGNPKNNPVKVRSDR

Rat                           SLFRTVLDSGISELMTHMWFVMHQPHAGNPKNNPGKVRSDR

Pig                           SLFRTVLDSGVSE-----------------------VRSDR

Bovine                        SLFRTVLDSGISE-----------------------VRSDR

Rabbit                        SLFRTVLDSGISE-----------------------VRSDR

Sheep                         SLFRTVLDSGISE-----------------------VRSDR

Cat                           SLFRTVLDSGISE-----------------------VRSDR

Horse                         SLFRTVLDSGISE-----------------------VRSDR

Chicken                       SLFRSVLESGISE-----------------------VRSDR

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	1 – 173	Alpha-crystallin A chain
Chain	1 – 172	Alpha-crystallin A(1-172)
Chain	1 – 168	Alpha-crystallin A(1-168)
Chain	1 – 162	Alpha-crystallin A(1-162)
Domain	52 – 164	sHSP
Modified residue	70 – 70	N6-acetyllysine
Modified residue	90 – 90	Deamidated glutamine; partial

Literature citations
A novel mutation (F71L) in alphaA-crystallin with defective chaperone-like function associated with age-related cataract.
Bhagyalaxmi S.G.; Srinivas P.; Barton K.A.; Kumar K.R.; Vidyavathi M.; Petrash J.M.; Bhanuprakash Reddy G.; Padma T.;
Biochim. Biophys. Acta 1792:974-981(2009)
Cited for: VARIANT CTRCT9 LEU-71; CHARACTERIZATION OF VARIANT CTRCT9 LEU-71; FUNCTION;

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.