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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q86SG6: Variant p.His425Tyr

Serine/threonine-protein kinase Nek8
Gene: NEK8
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Variant information Variant position: help 425 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Histidine (H) to Tyrosine (Y) at position 425 (H425Y, p.His425Tyr). 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: help Change from medium size and polar (H) to large size and aromatic (Y) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In NPHP9; loss of ciliary localization; a full-length mouse NEK8 construct containing the mutation shows a defect in ciliary localization with no apparent effect on ciliation, mitosis or centriole number; no effect on interaction with ANKS6. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 425 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 692 The length of the canonical sequence.
Location on the sequence: help CLTDRGIIMTFGSGSNGCLG H GSLTDISQPTIVEALLGYEM 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         CLTDRGIIMTFGSGSNGCLGHGSLTDISQPTIVEALLGYEM

Mouse                         CLTDRGIIMTFGSGSNGCLGHGNLTDISQPTIVEALLGYEM

Rat                           CLTDRGIIMTFGSGSNGCLGHGSLTDISQPTIVEALLGYEM

Zebrafish                     CLTDRGIIMTFGSGSNGCLGHGNFNDVTQPKIVEALLGYEL
Sequence annotation in neighborhood: help 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 – 692 Serine/threonine-protein kinase Nek8
Repeat 410 – 461 RCC1 2



Literature citations
NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis.
Otto E.A.; Trapp M.L.; Schultheiss U.T.; Helou J.; Quarmby L.M.; Hildebrandt F.;
J. Am. Soc. Nephrol. 19:587-592(2008)
Cited for: VARIANTS NPHP9 PHE-330; TYR-425 AND PRO-497; CHARACTERIZATION OF VARIANTS NPHP9 PHE-330; TYR-425 AND PRO-497; SUBCELLULAR LOCATION; Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.
Grampa V.; Delous M.; Zaidan M.; Odye G.; Thomas S.; Elkhartoufi N.; Filhol E.; Niel O.; Silbermann F.; Lebreton C.; Collardeau-Frachon S.; Rouvet I.; Alessandri J.L.; Devisme L.; Dieux-Coeslier A.; Cordier M.P.; Capri Y.; Khung-Savatovsky S.; Sigaudy S.; Salomon R.; Antignac C.; Gubler M.C.; Benmerah A.; Terzi F.; Attie-Bitach T.; Jeanpierre C.; Saunier S.;
PLoS Genet. 12:e1005894-e1005894(2016)
Cited for: VARIANTS RHPD2 ALA-87; 127-ARG--PRO-692 DEL; SER-416; 462-ARG--PRO-692 DEL; SER-580 AND TRP-602; CHARACTERIZATION OF VARIANTS RHPD2 ALA-87; 127-ARG--PRO-692 DEL; 462-ARG--PRO-692 DEL; SER-580 AND TRP-602; CHARACTERIZATION OF VARIANT NPHP9 TYR-425; INTERACTION WITH ANKS6; SUBCELLULAR LOCATION; 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.