UniProtKB/Swiss-Prot Q9NXB0: Variant p.Ser403Leu

Tectonic-like complex member MKS1
Gene: MKS1
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Variant information Variant position:

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

US 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 Serine (S) to Leucine (L) at position 403 (S403L, p.Ser403Leu). 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 small size and polar (S) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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 MKS1; uncertain significance; decreased primary cilia formation in starved fibroblasts from a patient also carrying a mutation potentially affecting splicing; complete rescue of ciliation defects in an MKS1-knockdown cell line; no effect on the localization to the transition zone. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs773684291 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

HEDESSDALPEWPVLYCEVL S LDFWQRYRVEGYGAVVLPAT 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                         HEDESSDALPEWPVLYCEVLSLDFWQRYRVEGYGAVVLPAT

Mouse                         HEDESAESLPEWPVLYCKVLSLDFWQRYRVEGYGAVVLPAT

Rat                           HEDESDESLPEWPVLYCKVLSLDFWQRYRVEGYGAVVLPVT

Drosophila                    EQHHPADLLH----LYFEVISIDSWQRERCEGYAHYAIPLT

Baker's yeast                 SEANSNSNNHNTAHSEYASKHVSPTPQSSHSNIGPQPQQNP

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 – 559	Tectonic-like complex member MKS1
Domain	311 – 439	C2 B9-type

Literature citations
MKS1 regulates ciliary INPP5E levels in Joubert syndrome.
Slaats G.G.; Isabella C.R.; Kroes H.Y.; Dempsey J.C.; Gremmels H.; Monroe G.R.; Phelps I.G.; Duran K.J.; Adkins J.; Kumar S.A.; Knutzen D.M.; Knoers N.V.; Mendelsohn N.J.; Neubauer D.; Mastroyianni S.D.; Vogt J.; Worgan L.; Karp N.; Bowdin S.; Glass I.A.; Parisi M.A.; Otto E.A.; Johnson C.A.; Hildebrandt F.; van Haaften G.; Giles R.H.; Doherty D.;
J. Med. Genet. 53:62-72(2016)
Cited for: VARIANTS MKS1 TYR-19; GLU-317; SER-372 DEL; LEU-403 AND SER-421; CHARACTERIZATION OF VARIANTS MKS1 TYR-19; GLU-317; SER-372 DEL; LEU-403 AND SER-421; FUNCTION; SUBCELLULAR LOCATION;

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.