Variant position: 2587 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 3122 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 SGGTPAPPRRKRRQTGQAYY AILLNRGRLEVHLSTGARTMR
Mouse SGGTLTPPRRKRRQTTQAYY AIFLNKGRLEVHLSSGTRTMR
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
23 – 3122 Laminin subunit alpha-2
2526 – 2710 Laminin G-like 3
Human laminin M chain (merosin): complete primary structure, chromosomal assignment, and expression of the M and A chain in human fetal tissues.
Vuolteenaho R.; Nissinen M.; Sainio K.; Byers M.; Eddy R.; Hirvonen H.; Shows T.B.; Sariola H.; Engvall E.; Tryggvason K.;
J. Cell Biol. 124:381-394(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT VAL-2587;
Structure of the human laminin alpha2-chain gene (LAMA2), which is affected in congenital muscular dystrophy.
Zhang X.; Vuolteenaho R.; Tryggvason K.;
J. Biol. Chem. 271:27664-27669(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT VAL-2587;
Merosin, a tissue-specific basement membrane protein, is a laminin-like protein.
Ehrig K.; Leivo I.; Argraves W.S.; Ruoslahti E.; Engvall E.;
Proc. Natl. Acad. Sci. U.S.A. 87:3264-3268(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1981-3122; PARTIAL PROTEIN SEQUENCE; VARIANT VAL-2587;
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.