UniProtKB/Swiss-Prot Q9NP85: Variant p.Arg229Gln

Podocin
Gene: NPHS2
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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:

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 Arginine (R) to Glutamine (Q) at position 229 (R229Q, p.Arg229Gln). 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 large size and basic (R) to medium size and polar (Q) 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 NPHS2; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs61747728 [ dbSNP | Ensembl ]

Sequence information Variant position:

229 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:

HVSKAVQFLVQTTMKRLLAH R SLTEILLERKSIAQDAKVAL 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                         HVSKAVQFLVQTTMKRLLAHRSLTEILLERKSIAQDAKVAL

Mouse                         HVSKAIQFLVQTTMKRLLAHRSLTEILLERKSIAQDVKVAL

Rat                           HVSKAIQFLVQTTMKRLLAHRSLTEILLERKSIAQDVKVAL

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 – 383	Podocin
Topological domain	124 – 383	Cytoplasmic
Alternative sequence	179 – 246	Missing. In isoform 2.

Literature citations
NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele.
Tsukaguchi H.; Sudhakar A.; Le T.C.; Nguyen T.; Yao J.; Schwimmer J.A.; Schachter A.D.; Poch E.; Abreu P.F.; Appel G.B.; Pereira A.B.; Kalluri R.; Pollak M.R.;
J. Clin. Invest. 110:1659-1666(2002)
Cited for: VARIANT NPHS2 GLN-229; INVOLVEMENT IN NPHS2; Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.
Buescher A.K.; Kranz B.; Buescher R.; Hildebrandt F.; Dworniczak B.; Pennekamp P.; Kuwertz-Broeking E.; Wingen A.M.; John U.; Kemper M.; Monnens L.; Hoyer P.F.; Weber S.; Konrad M.;
Clin. J. Am. Soc. Nephrol. 5:2075-2084(2010)
Cited for: VARIANTS NPHS2 138-ARG--LEU-383 DEL; GLN-138; HIS-168; GLN-229; TRP-291; VAL-310 AND ARG-328; VARIANTS MET-290 AND VAL-297; Disruption of PTPRO causes childhood-onset nephrotic syndrome.
Ozaltin F.; Ibsirlioglu T.; Taskiran E.Z.; Baydar D.E.; Kaymaz F.; Buyukcelik M.; Kilic B.D.; Balat A.; Iatropoulos P.; Asan E.; Akarsu N.A.; Schaefer F.; Yilmaz E.; Bakkaloglu A.;
Am. J. Hum. Genet. 89:139-147(2011)
Cited for: VARIANT GLN-229; NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis.
Kerti A.; Csohany R.; Wagner L.; Javorszky E.; Maka E.; Tory K.;
Pediatr. Nephrol. 28:2061-2064(2013)
Cited for: VARIANT NPHS2 GLN-229; POSSIBLE ROLE AS DISEASE MODIFIER IN NPHS2; Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.
Tory K.; Menyhard D.K.; Woerner S.; Nevo F.; Gribouval O.; Kerti A.; Straner P.; Arrondel C.; Cong E.H.; Tulassay T.; Mollet G.; Perczel A.; Antignac C.;
Nat. Genet. 46:299-304(2014)
Cited for: VARIANT NPHS2 GLN-229; NPHS2 mutations account for only 15% of nephrotic syndrome cases.
Guaragna M.S.; Lutaif A.C.; Piveta C.S.; Souza M.L.; de Souza S.R.; Henriques T.B.; Maciel-Guerra A.T.; Belangero V.M.; Guerra-Junior G.; De Mello M.P.;
BMC Med. Genet. 16:88-88(2015)
Cited for: VARIANTS NPHS2 GLN-229; GLU-260; VAL-284 AND LYS-310; Expansion of phenotype and genotypic data in CRB2-related syndrome.
Lamont R.E.; Tan W.H.; Innes A.M.; Parboosingh J.S.; Schneidman-Duhovny D.; Rajkovic A.; Pappas J.; Altschwager P.; DeWard S.; Fulton A.; Gray K.J.; Krall M.; Mehta L.; Rodan L.H.; Saller D.N. Jr.; Steele D.; Stein D.; Yatsenko S.A.; Bernier F.P.; Slavotinek A.M.;
Eur. J. Hum. Genet. 24:1436-1444(2016)
Cited for: VARIANT NPHS2 GLN-229;

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