Variant position: 5015 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 8797 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 CQRYYQVFQAANDWLEDAQE LLQLAGNGLDVESAEENLKSH
Mouse CQRYYQVFQAANDWLDDAQE MLQLAGNGLDVESAEENLRSH
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 – 8797 Nesprin-1
1 – 8746 Cytoplasmic
4992 – 5099 Spectrin 45
314 – 8666
1 – 7843 Missing. In isoform 9.
1 – 7838 Missing. In isoform 3.
1 – 7658 Missing. In isoform 11.
1 – 5585 Missing. In isoform 8.
1 – 5476 Missing. In isoform 2.
1444 – 8797 Missing. In isoform 5.
1726 – 8797 Missing. In isoform 6.
3050 – 8797 Missing. In isoform 10.
3395 – 8797 Missing. In isoform GSRP-56.
The nesprins are giant actin-binding proteins, orthologous to Drosophila melanogaster muscle protein MSP-300.
Zhang Q.; Ragnauth C.; Greener M.J.; Shanahan C.M.; Roberts R.G.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); SUBCELLULAR LOCATION; VARIANTS THR-4596; MET-5015; VAL-7302 AND ALA-8323;
Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Nagase T.; Ishikawa K.; Kikuno R.; Hirosawa M.; Nomura N.; Ohara O.;
DNA Res. 6:337-345(1999)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 4219-8797 (ISOFORM 7); VARIANTS THR-4596 AND MET-5015;
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.