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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NP85: Variant p.Glu237Gln

Podocin
Gene: NPHS2
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Variant information Variant position: help 237
Type of variant: help LB/B
Residue change: help From Glutamate (E) to Glutamine (Q) at position 237 (E237Q, p.Glu237Gln).
Physico-chemical properties: help Change from medium size and acidic (E) to medium size and polar (Q)
BLOSUM score: help 2
Other resources: help


Sequence information Variant position: help 237
Protein sequence length: help 383
Location on the sequence: help LVQTTMKRLLAHRSLTEILL E RKSIAQDAKVALDSVTCIWG
Residue conservation: help 
Human                         LVQTTMKRLLAHRSLTEILLERKSIAQDAKVALDSVTCIWG

Mouse                         LVQTTMKRLLAHRSLTEILLERKSIAQDVKVALDAVTCIWG

Rat                           LVQTTMKRLLAHRSLTEILLERKSIAQDVKVALDSVTCVWG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 383 Podocin
Topological domain 124 – 383 Cytoplasmic
Alternative sequence 179 – 246 Missing. In isoform 2.



Literature citations
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.
Weber S.; Gribouval O.; Esquivel E.L.; Moriniere V.; Tete M.J.; Legendre C.; Niaudet P.; Antignac C.;
Kidney Int. 66:571-579(2004)
Cited for: VARIANTS NPHS2 THR-29; LEU-118; CYS-168; HIS-168; SER-168; VAL-172; THR-208; 236-LEU--ARG-238 DEL; SER-238 AND GLU-260; VARIANTS VAL-61; GLN-237 AND VAL-242; A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.
Al-Hamed M.H.; Al-Sabban E.; Al-Mojalli H.; Al-Harbi N.; Faqeih E.; Al Shaya H.; Alhasan K.; Al-Hissi S.; Rajab M.; Edwards N.; Al-Abbad A.; Al-Hassoun I.; Sayer J.A.; Meyer B.F.;
J. Hum. Genet. 58:480-489(2013)
Cited for: VARIANTS NPHS2 39-GLN--LEU-383 DEL; PRO-138; HIS-168; MET-180; PHE-254 AND GLU-260; VARIANT GLN-237; 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.