UniProtKB/Swiss-Prot Q96PY6: Variant p.Ser155Thr

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 155 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 Threonine (T) at position 155 (S155T, p.Ser155Thr). 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 polar (T) 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: In OFD2; uncertain significance; the nucleotide substitution creating this missense variant may predominantly result in aberrant splicing, with skipping of exon 6 and creation of a premature stop codon, possibly leading to nonsense-mediated mRNA decay. Any additional useful information about the variant.

Sequence information

Variant position: 155 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1258 The length of the canonical sequence.
Location on the sequence: FLTKDGTVQLGDFGIARVLN S TVELARTCIGTPYYLSPEIC 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.
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 – 1258	Serine/threonine-protein kinase Nek1
Domain	4 – 258	Protein kinase
Modified residue	156 – 156	Phosphothreonine
Modified residue	162 – 162	Phosphothreonine; by autocatalysis
Helix	155 – 164

Literature citations

Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome).
Monroe G.R.; Kappen I.F.; Stokman M.F.; Terhal P.A.; van den Boogaard M.H.; Savelberg S.M.; van der Veken L.T.; van Es R.J.; Lens S.M.; Hengeveld R.C.; Creton M.A.; Janssen N.G.; Mink van der Molen A.B.; Ebbeling M.B.; Giles R.H.; Knoers N.V.; van Haaften G.;
Eur. J. Hum. Genet. 24:1752-1760(2016)
Cited for: INVOLVEMENT IN OFD2; VARIANTS OFD2 THR-155 AND 409-TRP--GLU-1258 DEL;