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UniProtKB/Swiss-Prot Q9NPJ1: Variant p.Thr325Pro

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

Variant position:  325
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 Threonine (T) to Proline (P) at position 325 (T325P, p.Thr325Pro).
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 (T) to medium size and hydrophobic (P)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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:  Has a modifier effect on BBS; causes a mislocalization of the protein; fails to associate with centrosome.
Any additional useful information about the variant.

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



Sequence information

Variant position:  325
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:   LNMHRIIAIDRIGVTLMEPL  T KMTGTQPIGSLGSICPNSYG
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                         LNMHRIIAIDRIGVTLMEPLTKMTGTQPIGSLGSICPNSYG

Mouse                         FSERHVMAIDRVGVTLMESLSKVTGATPIGSLNPIVSTTYG

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

MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis.
Kim J.C.; Ou Y.Y.; Badano J.L.; Esmail M.A.; Leitch C.C.; Fiedrich E.; Beales P.L.; Archibald J.M.; Katsanis N.; Rattner J.B.; Leroux M.R.;
J. Cell Sci. 118:1007-1020(2005)
Cited for: SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS BBS6 ASP-52; LEU-155; ALA-286; GLU-345 AND SER-499; CHARACTERIZATION OF VARIANT PRO-325;

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
Beales P.L.; Badano J.L.; Ross A.J.; Ansley S.J.; Hoskins B.E.; Kirsten B.; Mein C.A.; Froguel P.; Scambler P.J.; Lewis R.A.; Lupski J.R.; Katsanis N.;
Am. J. Hum. Genet. 72:1187-1199(2003)
Cited for: VARIANT BBS6 PRO-236; VARIANT PRO-325;

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.
Badano J.L.; Kim J.C.; Hoskins B.E.; Lewis R.A.; Ansley S.J.; Cutler D.J.; Castellan C.; Beales P.L.; Leroux M.R.; Katsanis N.;
Hum. Mol. Genet. 12:1651-1659(2003)
Cited for: VARIANT PRO-325; CHARACTERIZATION OF VARIANT PRO-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.