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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P16278: Variant p.Phe314Leu

Beta-galactosidase
Gene: GLB1
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Variant information Variant position: help 314
Type of variant: help LP/P [Disclaimer]
Residue change: help From Phenylalanine (F) to Leucine (L) at position 314 (F314L, p.Phe314Leu).
Physico-chemical properties: help Change from large size and aromatic (F) to medium size and hydrophobic (L)
BLOSUM score: help 0
Variant description: help In GM1G2; decrease in galactosidase activity.


Sequence information Variant position: help 314
Protein sequence length: help 677
Location on the sequence: help YDILARGASVNLYMFIGGTN F AYWNGANSPYAAQPTSYDYD
Residue conservation: help 
Human                         YDILARGASVNLYMFIGGTNFAYWNGANSPYAAQPTSYDYD

                              HDILAHGANVNLYMFIGGTNFAYWNGANMPYQAQPTSYDYD

Mouse                         YNLLARGANVNLYMFIGGTNFAYWNGANTPYEPQPTSYDYD

Bovine                        HDMLALGANVNMYMFIGGTNFAYWNGANIPYQPQPTSYDYD

Cat                           HDVLAHGANVNLYMFIGGTNFAYWNGANIPYQPQPTSYDYD
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 29 – 677 Beta-galactosidase
Binding site 333 – 333



Literature citations
Recurrent and novel GLB1 mutations in India.
Bidchol A.M.; Dalal A.; Trivedi R.; Shukla A.; Nampoothiri S.; Sankar V.H.; Danda S.; Gupta N.; Kabra M.; Hebbar S.A.; Bhat R.Y.; Matta D.; Ekbote A.V.; Puri R.D.; Phadke S.R.; Gowrishankar K.; Aggarwal S.; Ranganath P.; Sharda S.; Kamate M.; Datar C.A.; Bhat K.; Kamath N.; Shah H.; Krishna S.; Gopinath P.M.; Verma I.C.; Nagarajaram H.A.; Satyamoorthy K.; Girisha K.M.;
Gene 567:173-181(2015)
Cited for: VARIANTS GM1G2 CYS-49; ARG-134; CYS-148; GLU-262; LEU-314; PRO-337; VAL-414; ASN-493; LEU-597 AND ILE-600; CHARACTERIZATION OF VARIANTS GM1G2 CYS-49; GLU-262; LEU-314; PRO-337; VAL-414; ASN-493; LEU-597 AND ILE-600; VARIANTS GM1G1 TRP-68; ARG-123; PRO-236; CYS-331; ASN-332; PRO-337; HIS-482 AND PRO-514; CHARACTERIZATION OF VARIANTS GM1G1 TRP-68; ARG-123; PRO-236; ASN-332; PRO-337; HIS-482 AND PRO-514; VARIANT GM1G3 PHE-297; CHARACTERIZATION OF VARIANT GM1G3 PHE-297; VARIANTS GLN-129 AND CYS-521; 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.