UniProtKB/Swiss-Prot Q86SG6: Variant p.Ile150Met

Serine/threonine-protein kinase Nek8
Gene: NEK8
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Variant information Variant position:

150 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 Isoleucine (I) to Methionine (M) at position 150 (I150M, p.Ile150Met). 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:

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 PKD8; uncertain significance; it rescues ciliary defects when transfected in NEK8-deficient epithelial renal cells. Any additional useful information about the variant.

Sequence information Variant position:

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

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

KTQNILLDKHRMVVKIGDFG I SKILSSKSKAYTVVGTPCYI 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                         KTQNILLDKHRMVVKIGDFGISKILSSKSKAYTVVGTPCYI

Mouse                         KTQNILLDKHRMVVKIGDFGISKILSSKSKAYTVVGTPCYI

Rat                           KTQNILLDKHRMVVKIGDFGISKILSSKSKAYTVVGTPCYI

Zebrafish                     KTQNILLDKHQMIVKIGDFGISKILVSKSKAYTVVGTPCYI

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 – 692	Serine/threonine-protein kinase Nek8
Domain	4 – 258	Protein kinase
Modified residue	162 – 162	Phosphothreonine; by autocatalysis

Literature citations
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.
Claus L.R.; Chen C.; Stallworth J.; Turner J.L.; Slaats G.G.; Hawks A.L.; Mabillard H.; Senum S.R.; Srikanth S.; Flanagan-Steet H.; Louie R.J.; Silver J.; Lerner-Ellis J.; Morel C.; Mighton C.; Sleutels F.; van Slegtenhorst M.; van Ham T.; Brooks A.S.; Dorresteijn E.M.; Barakat T.S.; Dahan K.; Demoulin N.; Goffin E.J.; Olinger E.; Larsen M.; Hertz J.M.; Lilien M.R.; Obeidova L.; Seeman T.; Stone H.K.; Kerecuk L.; Gurgu M.; Yousef Yengej F.A.; Ammerlaan C.M.E.; Rookmaaker M.B.; Hanna C.; Rogers R.C.; Duran K.; Peters E.; Sayer J.A.; van Haaften G.; Harris P.C.; Ling K.; Mason J.M.; van Eerde A.M.; Steet R.;
Kidney Int. 104:995-1007(2023)
Cited for: VARIANTS PKD8 TRP-45; MET-150 AND GLN-157; CHARACTERIZATION OF VARIANTS PKD8 TRP-45; MET-150 AND GLN-157; INVOLVEMENT IN PKD8; FUNCTION;

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.