UniProtKB/SwissProt variant VAR

Paired box protein Pax-2
Gene: PAX2
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Variant information Variant position:

56
Type of variant:

LP/P [Disclaimer]
Residue change:

From Arginine (R) to Glutamine (Q) at position 56 (R56Q, p.Arg56Gln).
Physico-chemical properties:

Change from large size and basic (R) to medium size and polar (Q)
BLOSUM score:

1
Variant description:

In FSGS7; decreased DNA-binding capability and transactivation ability.
Other resources:

Variant rs587777708 [ dbSNP | Ensembl ]

Sequence information Variant position:

56
Protein sequence length:

417
Location on the sequence:

VVRQRIVELAHQGVRPCDIS R QLRVSHGCVSKILGRYYETG
Residue conservation:

Human                         VVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETG

Mouse                         VVRQRIVELAHQGVRPCDISRQLRVSHGCVSKILGRYYETG

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 417	Paired box protein Pax-2
DNA binding	16 – 142	Paired
Region	19 – 75	PAI subdomain

Literature citations
Mutations in PAX2 associate with adult-onset FSGS.
Barua M.; Stellacci E.; Stella L.; Weins A.; Genovese G.; Muto V.; Caputo V.; Toka H.R.; Charoonratana V.T.; Tartaglia M.; Pollak M.R.;
J. Am. Soc. Nephrol. 25:1942-1953(2014)
Cited for: INVOLVEMENT IN FSGS7; VARIANTS FSGS7 GLN-56; LEU-80; PHE-133; ALA-150; ASN-164 AND ARG-189; CHARACTERIZATION OF VARIANTS FSGS7 GLN-56; LEU-80; PHE-133 AND ARG-189; VARIANTS PAPRS GLY-2; VAL-139; VAL-295; PRO-296; SER-298 AND ALA-329; INTERACTION WITH TLE4; FUNCTION;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q02962: Variant p.Arg56Gln