UniProtKB/SwissProt variant VAR

Variant information

Variant position:

896

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

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:

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:

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:

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:

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:

Links to websites of interest for the variant.

Variant rs863225135 [ dbSNP | Ensembl ]

Sequence information

Variant position:

896

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

1196

The length of the canonical sequence.

Location on the sequence:

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:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         EQVAMYSDLPFKSPIRDISYHPFENMVAFCAFGQNEPILLY

Mouse                         EQVAMYSDLPFKSTIRDISYHPLENMVAFCAFGQSEPILLY

Rat                           EQVAMYSELPFKSTIRDISYHPFENMVAFCAFGQSEPILLY

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 – 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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8N157: Variant p.His896Arg