UniProtKB/SwissProt variant VAR

Jouberin
Gene: AHI1
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Variant information Variant position:

1086
Type of variant:

LB/B
Residue change:

From Glutamate (E) to Glycine (G) at position 1086 (E1086G, p.Glu1086Gly).
Physico-chemical properties:

Change from medium size and acidic (E) to glycine (G)
BLOSUM score:

-2
Other resources:

Variant rs148000791 [ dbSNP | Ensembl ]

Sequence information Variant position:

1086
Protein sequence length:

1196
Location on the sequence:

RSDELTIHRGDIIRVFFKDN E DWWYGSIGKGQEGYFPANHV
Residue conservation:

Human                         RSDELTIHRGDIIRVFFKDNEDWWYGSIGKGQEGYFPANHV

Mouse                         RSDELTIHRGDIIRVYFKDNEDWWYGSVRKGQEGFFPANHV

Rat                           RSDELTIHRGDIIRVFFKDNEDWWYGSLGKGQEGFFPANHV

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 1196	Jouberin
Domain	1051 – 1111	SH3
Alternative sequence	610 – 1196	Missing. In isoform 3.
Alternative sequence	1054 – 1196	Missing. In isoform 2.
Beta strand	1085 – 1094

Literature citations
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
Srour M.; Schwartzentruber J.; Hamdan F.F.; Ospina L.H.; Patry L.; Labuda D.; Massicotte C.; Dobrzeniecka S.; Capo-Chichi J.M.; Papillon-Cavanagh S.; Samuels M.E.; Boycott K.M.; Shevell M.I.; Laframboise R.; Desilets V.; Maranda B.; Rouleau G.A.; Majewski J.; Michaud J.L.;
Am. J. Hum. Genet. 90:693-700(2012)
Cited for: VARIANT GLY-1086;

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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8N157: Variant p.Glu1086Gly