Variant position: 540 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 999 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 YISLAIRKRVQETKFGNAFT EEDSELVVNYIAKKSFCRRAI
Mouse CISLALRRRVQETKFGGAFS EEDSQLVVNYRAKKSFCRRAI
Rat YLSLAIKRRVQETKFGGAFS EEDSQLVVNYRAKKSFCRRAI
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
21 – 999 Tyrosine-protein kinase Mer
527 – 999 Cytoplasmic
543 – 543 Phosphoserine
Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa.
Gal A.; Li Y.; Thompson D.A.; Weir J.; Orth U.; Jacobson S.G.; Apfelstedt-Sylla E.; Vollrath D.;
Nat. Genet. 26:270-271(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 22-999; VARIANTS RP38 LYS-540; CYS-661 AND THR-871; VARIANTS SER-20; ASN-118; THR-282; HIS-293; LYS-466; SER-498; VAL-518 AND VAL-871;
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.