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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NP85: Variant p.Glu44Ala

Podocin
Gene: NPHS2
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Variant information Variant position: help 44
Type of variant: help LB/B
Residue change: help From Glutamate (E) to Alanine (A) at position 44 (E44A, p.Glu44Ala).
Physico-chemical properties: help Change from medium size and acidic (E) to small size and hydrophobic (A)
BLOSUM score: help -1


Sequence information Variant position: help 44
Protein sequence length: help 383
Location on the sequence: help NKRAKAERSGGGRGRQEAGP E PSGSGRAGTPGEPRAPAATV
Residue conservation: help 
Human                         NKRAKAERSGGGRGRQEAGPEPSGSGRAGTPGEPRAPA--ATV

Mouse                         DKKAKAGRGSRGRARPDAGAERQSTGRTATRGEPRAPAATA

Rat                           DKKSKAGRGNRGRARPDAGAERQSAGRTGTREEHRAPA--A
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 383 Podocin
Topological domain 1 – 102 Cytoplasmic
Region 1 – 76 Disordered



Literature citations
Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease.
Dusel J.A.; Burdon K.P.; Hicks P.J.; Hawkins G.A.; Bowden D.W.; Freedman B.I.;
Kidney Int. 68:256-262(2005)
Cited for: VARIANTS ALA-44 AND VAL-61;
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.