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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P20794: Variant p.Arg166His

Serine/threonine-protein kinase MAK
Gene: MAK
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Variant information Variant position: help 166 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Histidine (H) at position 166 (R166H, p.Arg166His). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In RP62. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 166 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 623 The length of the canonical sequence.
Location on the sequence: help LARELRSQPPYTDYVSTRWY R APEVLLRSSVYSSPIDVWAV 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         LARELRSQPPYTDYVSTRWYRAPEVLLRSSVYSSPIDVWAV

Mouse                         LARELRSQPPYTDYVSTRWYRAPEVLLRSSVYSSPIDVWAV

Rat                           LARELRSQPPYTDYVSTRWYRAPEVLLRSSVYSSPIDVWAV
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 623 Serine/threonine-protein kinase MAK
Domain 4 – 284 Protein kinase
Modified residue 157 – 157 Phosphothreonine; by autocatalysis
Modified residue 159 – 159 Phosphotyrosine; by autocatalysis
Mutagenesis 157 – 157 T -> A. Abolishes autophosphorylation and impairs kinase activity.
Mutagenesis 159 – 159 Y -> F. Abolishes autophosphorylation and impairs kinase activity.



Literature citations
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;
Disclaimer: 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.