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UniProtKB/Swiss-Prot Q9NRR6: Variant p.Cys641Arg

Phosphatidylinositol polyphosphate 5-phosphatase type IV
Gene: INPP5E
Variant information

Variant position:  641
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Cysteine (C) to Arginine (R) at position 641 (C641R, p.Cys641Arg).
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:  Change from medium size and polar (C) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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:  In JBTS1.
Any additional useful information about the variant.

Sequence information

Variant position:  641
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  644
The length of the canonical sequence.

Location on the sequence:   RISKEIQRQQALQSQNSSTI  C SVS
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                         RISKEIQRQQALQSQNSSTICSVS

Chimpanzee                    RISKEIQRQQALQSQNSSTICSVS

Mouse                         RISKEIQRQEALKSQSSSAVCTVS

Rat                           RISKEIQRQEALKSQSSSAVCTVS

Drosophila                    RLNN--------QYSGASAVCVLQ

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.

Chain 1 – 641 Phosphatidylinositol polyphosphate 5-phosphatase type IV
Modified residue 641 – 641 Cysteine methyl ester
Lipidation 641 – 641 S-farnesyl cysteine
Mutagenesis 641 – 641 C -> A. Abolishes farnesylation-dependent interaction with PDE6D.

Literature citations

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L.; Brancati F.; Silhavy J.; Iannicelli M.; Nickerson E.; Elkhartoufi N.; Scott E.; Spencer E.; Gabriel S.; Thomas S.; Ben-Zeev B.; Bertini E.; Boltshauser E.; Chaouch M.; Cilio M.R.; de Jong M.M.; Kayserili H.; Ogur G.; Poretti A.; Signorini S.; Uziel G.; Zaki M.S.; Johnson C.; Attie-Bitach T.; Gleeson J.G.; Valente E.M.;
Eur. J. Hum. Genet. 21:1074-1078(2013)
Cited for: VARIANTS JBTS1 ARG-286; MET-303; SER-345; ASN-426; GLN-435; ARG-474; ASP-534; HIS-563; CYS-585; GLN-621 AND ARG-641;

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.