UniProtKB/Swiss-Prot Q8IWN7: Variant p.Gly2069Val

Retinitis pigmentosa 1-like 1 protein
Gene: RP1L1
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Variant information Variant position:

2069 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 Glycine (G) to Valine (V) at position 2069 (G2069V, p.Gly2069Val). 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 glycine (G) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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
Polymorphism:

The exact length of RP1L1 is variable between individuals due to the presence of several length polymorphisms. The sequence shown here is that of allele RP1L1-1 and includes 3 repeats (from aa 1292-1342) with a length of 16 amino acids. The number of repeats is highly polymorphic and varies among different alleles, ranging from 3 to 8. Additional information on the polymorphism described.

Sequence information Variant position:

2069 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

2400 The length of the canonical sequence.
Location on the sequence:

QPESDGVEAPEAEEEAQEAE G EVQEAEGEAHPESEDVDAQE 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                         QPESDGVEAPEAEEEAQEAEGEVQEAEGEAHPESEDVDAQE

Mouse                         ----SGCCAPE-EDEATEEDGEI------------------

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 – 2400	Retinitis pigmentosa 1-like 1 protein
Repeat	2056 – 2071	2-14
Region	1697 – 2400	Disordered
Region	1836 – 2244	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]-[AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]-[EGSQDI]-[AVIE]
Coiled coil	2054 – 2081
Compositional bias	2052 – 2071	Acidic residues
Alternative sequence	223 – 2400	Missing. In isoform 2.

Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.

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.