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UniProtKB/Swiss-Prot Q9NPJ1: Variant p.Leu277Pro

McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
Gene: MKKS
Variant information

Variant position:  277
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 Leucine (L) to Proline (P) at position 277 (L277P, p.Leu277Pro).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
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 BBS6; moderately affects interaction with BBS2; greatly reduces the ability to interact with BBS12.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  277
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:   EGTVVVSYGVSLENAVLDQL  L NLGRQLISDHVDLVLCQKVI
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                         EGTVVVSYGVSLENAVLDQLLNLGRQLISDHVDLVLCQKVI

Mouse                         EGVVVAHYQVSLENAVLEQLLNLGRRLVTDHVDLVLCQKVI

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.

TypePositionsDescription
Chain 1 – 570 McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin
Region 198 – 370 Substrate-binding apical domain


Literature citations

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
Seo S.; Baye L.M.; Schulz N.P.; Beck J.S.; Zhang Q.; Slusarski D.C.; Sheffield V.C.;
Proc. Natl. Acad. Sci. U.S.A. 107:1488-1493(2010)
Cited for: FUNCTION; IDENTIFICATION IN A MULTIPROTEIN COMPLEX; INTERACTION WITH BBS2; CHARACTERIZATION OF VARIANTS BBS6 CYS-37; ASP-52; ALA-57; TYR-84; PRO-236 AND PRO-277;

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.
Katsanis N.; Beales P.L.; Woods M.O.; Lewis R.A.; Green J.S.; Parfrey P.S.; Ansley S.J.; Davidson W.S.; Lupski J.R.;
Nat. Genet. 26:67-70(2000)
Cited for: VARIANTS BBS6 CYS-37; ALA-57 AND PRO-277;

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.