Variant position: 113 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 211 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 SNSRDSDSLLSLRPLNIDSP HHKLHLFENPAFSGRKMEIVD
Mouse SSSRRSDILLSLRPLHIDGP DHKLHLFENPAFSGRKMEIVD
Rat SSSRRSDILLSLRPLHIDGP DHKLHLFENPAFSGRKMEIVD
Bovine SNSHHSDSLLSLRPLHIDGP DHKLHLFENPAFGGRKMEIVD
Chicken SNSHNSDSLMSLRPLQIDSP DHKIHLFENAGYTGRKMEIVD
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 – 211 Beta-crystallin B3
2 – 211 Beta-crystallin B3, N-terminally processed
109 – 113 Connecting peptide
A genome annotation-driven approach to cloning the human ORFeome.
Collins J.E.; Wright C.L.; Edwards C.A.; Davis M.P.; Grinham J.A.; Cole C.G.; Goward M.E.; Aguado B.; Mallya M.; Mokrab Y.; Huckle E.J.; Beare D.M.; Dunham I.;
Genome Biol. 5:R84.1-R84.11(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ASP-113;
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS GLN-105 AND ASP-113;
Different evolution rates within the lens-specific beta-crystallin gene family.
Aarts H.J.M.; Jacobs E.H.M.; van Willigen G.; Lubsen N.H.; Schoenmakers J.G.G.;
J. Mol. Evol. 28:313-321(1989)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 66-211; VARIANT ASP-113;
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.