UniProtKB/Swiss-Prot Q96CM4: Variant p.Glu64Lys

Nucleoredoxin-like protein 1
Gene: NXNL1
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Variant information Variant position:

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

US 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 Glutamate (E) to Lysine (K) at position 64 (E64K, p.Glu64Lys). 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 acidic (E) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 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 a patient with retinal dytrophy; uncertain significance; loss of interaction with BSG; loss of ability to sustain retinal cone survival. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs150719211 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

CPQCQAFVPILKDFFVRLTD E FYVLRAAQLALVYVSQDSTE 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                         CPQCQAFVPILKDFFVRLTDEFYVLRAAQLALVYVSQDSTE

Mouse                         CPQCQAFAPVLKDFFVRLTDEFYVLRAAQLALVYVSQDPTE

Xenopus laevis                SSQCQEFAPLLKDFFVRLTDEFYVDRSSQLALVYVSLDQSE

Zebrafish                     SEKCQDFAPTLKDFYKKLTDEFYVERSAQLVLLYISLDSSE

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 – 212	Nucleoredoxin-like protein 1
Domain	1 – 164	Thioredoxin

Literature citations
Rod-derived cone viability factor promotes cone survival by stimulating aerobic glycolysis.
Ait-Ali N.; Fridlich R.; Millet-Puel G.; Clerin E.; Delalande F.; Jaillard C.; Blond F.; Perrocheau L.; Reichman S.; Byrne L.C.; Olivier-Bandini A.; Bellalou J.; Moyse E.; Bouillaud F.; Nicol X.; Dalkara D.; van Dorsselaer A.; Sahel J.A.; Leveillard T.;
Cell 161:817-832(2015)
Cited for: CHARACTERIZATION OF VARIANT LYS-64; FUNCTION (ISOFORM 2); ALTERNATIVE SPLICING (ISOFORMS 1 AND 2); INTERACTION WITH BSG (ISOFORM 2);
Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA.
Hanein S.; Perrault I.; Gerber S.; Dollfus H.; Dufier J.L.; Feingold J.; Munnich A.; Bhattacharya S.; Kaplan J.; Sahel J.A.; Rozet J.M.; Leveillard T.;
Adv. Exp. Med. Biol. 572:9-14(2006)
Cited for: VARIANTS ASN-18; LYS-64; ARG-92; ILE-94; TRP-112; SER-162 AND ILE-178;

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.