UniProtKB/Swiss-Prot Q9NZV5: Variant p.Asn502Lys

Selenoprotein N
Gene: SELENON
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Variant information Variant position:

502 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 Asparagine (N) to Lysine (K) at position 502 (N502K, p.Asn502Lys). 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 (N) to large size and basic (K) 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
Other resources:

Links to websites of interest for the variant.

Variant rs2294228 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LNESFISTWSLVKELEELQN N QENSSHQKLAGLHLEKYSFP 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                         LNESFISTWSLVKELEELQNNQENSSHQKLAGLHLEKYSFP

Mouse                         LNESFISTWSLVKELEDLQTQQENPLHRQLAGLHLEKYSFP

Xenopus tropicalis            LNESFISTWSLVKELEELQSNKDS--YATFASLHLEKYNFP

Zebrafish                     LNQSFISSWSLVKELEDLQGDVKNVELSEKARLHLEKYTFP

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	44 – 590	Selenoprotein N
Glycosylation	483 – 483	N-linked (GlcNAc...) asparagine
Glycosylation	505 – 505	N-linked (GlcNAc...) asparagine

Literature citations
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
Moghadaszadeh B.; Petit N.; Jaillard C.; Brockington M.; Roy S.Q.; Merlini L.; Romero N.; Estournet B.; Desguerre I.; Chaigne D.; Muntoni F.; Topaloglu H.; Guicheney P.;
Nat. Genet. 29:17-18(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1); VARIANTS CMYP3 GLU-273; ARG-293 AND GLN-466; VARIANTS TYR-142 AND LYS-502; TISSUE SPECIFICITY; Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif.
Lescure A.; Gautheret D.; Carbon P.; Krol A.;
J. Biol. Chem. 274:38147-38154(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 86-590 (ISOFORM 2); VARIANT LYS-502; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 428-590 (ISOFORMS 1/2); VARIANT LYS-502;

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.