Variant position: 49 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:
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 EGLFEYDLLPFLSSTISPYY RQSLFRTVLDSGISE-----------------------VRSDRD
Rhesus macaque EGLFEYDLLPFLSSTISPYY RQSLFRTVLDSGISE------
Mouse EGLFEYDLLPFLSSTISPYY RQSLFRTVLDSGISELMTHMW
Rat EGLFEYDLLPFLSSTISPYY RQSLFRTVLDSGISELMTHMW
Pig EGLFEYDLLPFLSSTISPYY RQSLFRTVLDSGVSE------
Bovine EGLFEYDLLPFLSSTISPYY RQSLFRTVLDSGISE------
Rabbit EGLFEYDLLPFLSSTISPYY RQSLFRTVLDSGISE------
Sheep EGLFEYDLLPFLSSTISPYY RQSLFRTVLDSGISE------
Cat EGLFEYDLLPFLSSTISPYY RQSLFRTVLDSGISE------
Horse EGLFEYDLLPFLSSTISPYY RQSLFRTVLDSGISE------
Chicken EGLLEYDLLPLFSSTISPYY RQSLFRSVLESGISE------
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
1 – 173 Alpha-crystallin A chain
1 – 172 Alpha-crystallin A(1-172)
1 – 168 Alpha-crystallin A(1-168)
1 – 162 Alpha-crystallin A(1-162)
1 – 63 Required for complex formation with BFSP1 and BFSP2
34 – 34 Susceptible to oxidation
45 – 45 Phosphoserine
50 – 50 Deamidated glutamine; partial
Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q.
Mackay D.S.; Andley U.P.; Shiels A.;
Eur. J. Hum. Genet. 11:784-793(2003)
Cited for: VARIANT CTRCT9 CYS-49;
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.