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UniProtKB/Swiss-Prot Q9NP85: Variant p.Glu296Lys

Podocin
Gene: NPHS2
Chromosomal location: 1q25-q31
Variant information

Variant position:  296
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Glutamate (E) to Lysine (K) at position 296 (E296K, p.Glu296Lys).
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

Involvement in disease:  Nephrotic syndrome 2 (NPHS2) [MIM:600995]: A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. The disorder is resistant to steroid treatment and progresses to end-stage renal failure in the first or second decades. Some patients show later onset of the disorder. {ECO:0000269|PubMed:10742096, ECO:0000269|PubMed:12464671, ECO:0000269|PubMed:15253708, ECO:0000269|PubMed:17899208, ECO:0000269|PubMed:20798252, ECO:0000269|PubMed:20947785, ECO:0000269|PubMed:22565185, ECO:0000269|PubMed:22578956, ECO:0000269|PubMed:23242530, ECO:0000269|PubMed:23800802, ECO:0000269|PubMed:23913389, ECO:0000269|PubMed:24072147, ECO:0000269|PubMed:24227627, ECO:0000269|PubMed:26420286}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In NPHS2.
Any additional useful information about the variant.



Sequence information

Variant position:  296
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  383
The length of the canonical sequence.

Location on the sequence:   HSLAVEAEAQRQAKVRMIAA  E AEKAASESLRMAAEILSGTP
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                         HSLAVEAEAQRQAKVRMIAAEAEKAASESLRMAAEILSGTP

Mouse                         HSLAVEAEAQRQAKVRVIAAEGEKAASESLRMAAEILSGTP

Rat                           HSLAVEAEAQRQAKVRVIAAEGEKAASESLRMAAEILSGTP

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.

TypePositionsDescription
Chain 1 – 383 Podocin
Topological domain 124 – 383 Cytoplasmic


Literature citations

NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.
Bouchireb K.; Boyer O.; Gribouval O.; Nevo F.; Huynh-Cong E.; Moriniere V.; Campait R.; Ars E.; Brackman D.; Dantal J.; Eckart P.; Gigante M.; Lipska B.S.; Liutkus A.; Megarbane A.; Mohsin N.; Ozaltin F.; Saleem M.A.; Schaefer F.; Soulami K.; Torra R.; Garcelon N.; Mollet G.; Dahan K.; Antignac C.;
Hum. Mutat. 35:178-186(2014)
Cited for: VARIANTS NPHS2 SER-97; PRO-107; SER-122; VAL-175; TYR-183; LYS-281; LYS-296; VAL-309; ILE-315 AND GLY-333; VARIANTS LEU-20; GLN-237 AND GLN-264;

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.