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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8N157: Variant p.His896Arg

Jouberin
Gene: AHI1
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Variant information Variant position: help 896 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 Arginine (R) at position 896 (H896R, p.His896Arg). 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 basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 JBTS3; loss of localization at the primary cilium; loss of positive modulation of classical Wnt signaling; no effect on interaction with CTNNB1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 896 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1196 The length of the canonical sequence.
Location on the sequence: help EQVAMYSDLPFKSPIRDISY H PFENMVAFCAFGQNEPILLY 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                         EQVAMYSDLPFKSPIRDISYHPFENMVAFCAFGQNEPILLY

Mouse                         EQVAMYSDLPFKSTIRDISYHPLENMVAFCAFGQSEPILLY

Rat                           EQVAMYSELPFKSTIRDISYHPFENMVAFCAFGQSEPILLY

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 – 1196 Jouberin
Repeat 885 – 926 WD 7
Alternative sequence 610 – 1196 Missing. In isoform 3.



Literature citations
Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.
Lancaster M.A.; Gopal D.J.; Kim J.; Saleem S.N.; Silhavy J.L.; Louie C.M.; Thacker B.E.; Williams Y.; Zaki M.S.; Gleeson J.G.;
Nat. Med. 17:726-731(2011)
Cited for: FUNCTION; INTERACTION WITH CTNNB1; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS JBTS3 ASP-443; GLN-723 AND ARG-896; AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
Parisi M.A.; Doherty D.; Eckert M.L.; Shaw D.W.; Ozyurek H.; Aysun S.; Giray O.; Al Swaid A.; Al Shahwan S.; Dohayan N.; Bakhsh E.; Indridason O.S.; Dobyns W.B.; Bennett C.L.; Chance P.F.; Glass I.A.;
J. Med. Genet. 43:334-339(2006)
Cited for: VARIANTS HIS-548 AND TRP-830; VARIANTS JBTS3 ILE-671; GLY-719 AND ARG-896;
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.