UniProtKB/SwissProt variant VAR

Podocin
Gene: NPHS2
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Variant information Variant position:

34
Type of variant:

LB/B
Residue change:

From Glycine (G) to Glutamate (E) at position 34 (G34E, p.Gly34Glu).
Physico-chemical properties:

Change from glycine (G) to medium size and acidic (E)
BLOSUM score:

-2
Other resources:

Variant rs1674742844 [ dbSNP | Ensembl ]

Sequence information Variant position:

34
Protein sequence length:

383
Location on the sequence:

GRGGRTPHKENKRAKAERSG G GRGRQEAGPEPSGSGRAGTP
Residue conservation:

Human                         GRGGRTPHKENKRAKAERSGGGRGRQEAGPEPSGSGRAGTP

Mouse                         GRSSRSSSRDDKKAKAGRGSRGRARPDAGAERQSTGRTATR

Rat                           GRGSRSSSRDDKKSKAGRGNRGRARPDAGAERQSAGRTGTR

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 383	Podocin
Topological domain	1 – 102	Cytoplasmic
Region	1 – 76	Disordered
Compositional bias	1 – 41	Basic and acidic residues

Literature citations
NPHS2 mutations in sporadic steroid-resistant nephrotic syndrome in Japanese children.
Maruyama K.; Iijima K.; Ikeda M.; Kitamura A.; Tsukaguchi H.; Yoshiya K.; Hoshii S.; Wada N.; Uemura O.; Satomura K.; Honda M.; Yoshikawa N.;
Pediatr. Nephrol. 18:412-416(2003)
Cited for: VARIANT GLU-34;

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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NP85: Variant p.Gly34Glu