Variant position: 13 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 623 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 MNRYTTMRQLGD GTYGSVLMGKSNESGELVAIK
Mouse MNRYTTMKQLGD GTYGSVLMGKSNESGELVAIK
Rat MNRYTTMRQLGD GTYGSVLMGKSNESGELVAIK
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 – 623 Serine/threonine-protein kinase MAK
4 – 284 Protein kinase
10 – 18 ATP
33 – 33 ATP
33 – 33 K -> R. Abolishes autophosphorylation.
Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.
Ozgul R.K.; Siemiatkowska A.M.; Yucel D.; Myers C.A.; Collin R.W.; Zonneveld M.N.; Beryozkin A.; Banin E.; Hoyng C.B.; van den Born L.I.; Bose R.; Shen W.; Sharon D.; Cremers F.P.; Klevering B.J.; den Hollander A.I.; Corbo J.C.;
Am. J. Hum. Genet. 89:253-264(2011)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); ALTERNATIVE SPLICING (ISOFORM 2); VARIANTS RP62 SER-13; ARG-27; HIS-130; HIS-166 AND THR-181; CHARACTERIZATION OF VARIANTS RP62 SER-13 AND HIS-130; VARIANT LEU-325;
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.