UniProtKB/Swiss-Prot Q68CZ1: Variant p.Ala229Thr

Protein fantom
Gene: RPGRIP1L
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Variant information Variant position:

229 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Alanine (A) to Threonine (T) at position 229 (A229T, p.Ala229Thr). 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 small size and hydrophobic (A) to medium size and polar (T) 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:

Associated with the development of retinal degeneration in individuals with ciliopathies caused by mutations in other genes; found in patients with Leber congenital amaurosis, Senior-Loken syndrome, Joubert syndrome and Bardet-Biedl syndrome; abrogates interaction with RPGR. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs61747071 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1315 The length of the canonical sequence.
Location on the sequence:

RNLENVIQSQRGQIEELEHL A EILKTQLRRKENEIELSLLQ 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                         RNLENVIQSQRGQIEELEHLAEILKTQLRRKENEIELSLLQ

Mouse                         RNLENVIQSQRGQIEELEHLAEILKTQLKRKENEIELSLLQ

Caenorhabditis elegans        VRLNRTLKNKNDEITELKYTIE----KLRQLKSSVNQSSPP

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 – 1315	Protein fantom
Coiled coil	197 – 256

Literature citations
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Khanna H.; Davis E.E.; Murga-Zamalloa C.A.; Estrada-Cuzcano A.; Lopez I.; den Hollander A.I.; Zonneveld M.N.; Othman M.I.; Waseem N.; Chakarova C.F.; Maubaret C.; Diaz-Font A.; MacDonald I.; Muzny D.M.; Wheeler D.A.; Morgan M.; Lewis L.R.; Logan C.V.; Tan P.L.; Beer M.A.; Inglehearn C.F.; Lewis R.A.; Jacobson S.G.; Bergmann C.; Beales P.L.; Attie-Bitach T.; Johnson C.A.; Otto E.A.; Bhattacharya S.S.; Hildebrandt F.; Gibbs R.A.; Koenekoop R.K.; Swaroop A.; Katsanis N.;
Nat. Genet. 41:739-745(2009)
Cited for: INTERACTION WITH RPGR; VARIANTS GLY-199; THR-229; SER-447; PHE-546; ILE-647; ILE-677; LEU-937; SER-1025; GLY-1183; ASN-1264 AND TYR-1264; VARIANT MKS5 CYS-1236; CHARACTERIZATION OF VARIANT THR-229; ASSOCIATION OF VARIANT THR-229 WITH RETINAL DEGENERATION IN CILIOPATHIES;

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.