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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P06280: Variant p.Arg356Pro

Alpha-galactosidase A
Gene: GLA
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Variant information Variant position: help 356
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Proline (P) at position 356 (R356P, p.Arg356Pro).
Physico-chemical properties: help Change from large size and basic (R) to medium size and hydrophobic (P)
BLOSUM score: help -2
Variant description: help In FD; loss of enzyme activity.
Other resources: help


Sequence information Variant position: help 356
Protein sequence length: help 429
Location on the sequence: help NFEVWERPLSGLAWAVAMIN R QEIGGPRSYTIAVASLGKGV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 32 – 429 Alpha-galactosidase A



Literature citations
Functional and clinical consequences of novel alpha-galactosidase A mutations in Fabry disease.
Lukas J.; Scalia S.; Eichler S.; Pockrandt A.M.; Dehn N.; Cozma C.; Giese A.K.; Rolfs A.;
Hum. Mutat. 37:43-51(2016)
Cited for: CHARACTERIZATION OF VARIANTS FD ASP-20; PRO-20; PRO-21; GLY-33; GLU-35; TRP-36; SER-40; THR-42; PRO-45; ASP-48; TYR-56; LEU-60; PHE-64; ASP-80; HIS-86; ASN-91; THR-91; SER-94; TYR-94; ILE-113; THR-121; LEU-164; GLY-164; GLN-167; PHE-180; VAL-187; SER-196; THR-198; TYR-202; ARG-204; ARG-213; LEU-214; MET-219; PRO-227; SER-228; VAL-242; PHE-243; PRO-247; LYS-249; THR-253; ALA-254; ARG-259; ARG-262; GLY-269; GLY-276; VAL-309; ASN-315; ALA-316; SER-317; TYR-320; ARG-323; ARG-327; LEU-327; ARG-328; ARG-330; PRO-342; GLY-352; PRO-356; LYS-358; SER-360; ALA-375; SER-392; SER-399 AND ARG-404 DEL; CHARACTERIZATION OF VARIANTS PRO-3; VAL-3; GLY-71; THR-154; VAL-289 AND ASN-313; CATALYTIC ACTIVITY; 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.