UniProtKB/Swiss-Prot Q9NPJ1: Variant p.Arg517Cys

Molecular chaperone MKKS
Gene: MKKS
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Variant information Variant position:

517 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Arginine (R) to Cysteine (C) at position 517 (R517C, p.Arg517Cys). 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 large size and basic (R) to medium size and polar (C) 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
Other resources:

Links to websites of interest for the variant.

Variant rs1547 [ dbSNP | Ensembl ]

Sequence information Variant position:

517 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

570 The length of the canonical sequence.
Location on the sequence:

CGCGLYNSQEELNWSFLRST R RPFVPQSCLPHEAVGSASNL 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                         CGCGLYNSQEELNWSFLRSTRRPFVPQSCLPHEAVGSASNL

Mouse                         CGCGLYNSQEELSWSVLRSTYHPFAPQTCLPQAALGSASNL

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
Chain	1 – 570	Molecular chaperone MKKS

Literature citations
Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.
Stone D.L.; Slavotinek A.M.; Bouffard G.G.; Banerjee-Basu S.; Baxevanis A.D.; Barr M.; Biesecker L.G.;
Nat. Genet. 25:79-82(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS MKKS CYS-37; TYR-84 AND SER-242; VARIANTS VAL-49 AND CYS-517; Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.
Karmous-Benailly H.; Martinovic J.; Gubler M.-C.; Sirot Y.; Clech L.; Ozilou C.; Auge J.; Brahimi N.; Etchevers H.; Detrait E.; Esculpavit C.; Audollent S.; Goudefroye G.; Gonzales M.; Tantau J.; Loget P.; Joubert M.; Gaillard D.; Jeanne-Pasquier C.; Delezoide A.-L.; Peter M.-O.; Plessis G.; Simon-Bouy B.; Dollfus H.; Le Merrer M.; Munnich A.; Encha-Razavi F.; Vekemans M.; Attie-Bitach T.;
Am. J. Hum. Genet. 76:493-504(2005)
Cited for: VARIANTS BBS6 PRO-237 AND PRO-460; VARIANTS VAL-339; CYS-517 AND VAL-532; Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
Hichri H.; Stoetzel C.; Laurier V.; Caron S.; Sigaudy S.; Sarda P.; Hamel C.; Martin-Coignard D.; Gilles M.; Leheup B.; Holder M.; Kaplan J.; Bitoun P.; Lacombe D.; Verloes A.; Bonneau D.; Perrin-Schmitt F.; Brandt C.; Besancon A.-F.; Mandel J.-L.; Cossee M.; Dollfus H.;
Eur. J. Hum. Genet. 13:607-616(2005)
Cited for: VARIANTS BBS6 ALA-237 AND PRO-237; VARIANTS VAL-339; CYS-517 AND VAL-532; Variation of the McKusick-Kaufman gene and studies of relationships with common forms of obesity.
Andersen K.L.; Echwald S.M.; Larsen L.H.; Hamid Y.H.; Glumer C.; Jorgensen T.; Borch-Johnsen K.; Andersen T.; Sorensen T.I.; Hansen T.; Pedersen O.;
J. Clin. Endocrinol. Metab. 90:225-230(2005)
Cited for: VARIANTS SER-242; CYS-517 AND VAL-532;

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.