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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35475: Variant p.Arg105Gln

Alpha-L-iduronidase
Gene: IDUA
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Variant information Variant position: help 105
Type of variant: help LB/B
Residue change: help From Arginine (R) to Glutamine (Q) at position 105 (R105Q, p.Arg105Gln).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (Q)
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 105
Protein sequence length: help 653
Location on the sequence: help IKQVRTHWLLELVTTRGSTG R GLSYNFTHLDGYLDLLRENQ
Residue conservation: help 
Human                         IKQVRTHWLLELVTTRGSTGRGL-SYNFTHLDGYLDLLREN-Q

                              IEQVRTHWLLELITARESAGQGL-SYNFTHLDGYLDLLREN

Mouse                         IEQVRIHWLLDLITARKSPGQGL-MYNFTHLDAFLDLLMEN

Drosophila                    VTHIRIHWLLELIQFWQYDPSGIPIYDFSKFDDFIDFLHEE
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 28 – 653 Alpha-L-iduronidase
Binding site 91 – 91
Glycosylation 110 – 110 N-linked (GlcNAc...) asparagine
Turn 103 – 105



Literature citations
Identification and molecular characterization of alpha-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy.
Yogalingam G.; Guo X.H.; Muller V.J.; Brooks D.A.; Clements P.R.; Kakkis E.D.; Hopwood J.J.;
Hum. Mutat. 24:199-207(2004)
Cited for: VARIANTS MPS1H/S VAL-79; GLN-238; PRO-327; CYS-363; ARG-380; ARG-533 AND ILE-602; VARIANT MPS1S ARG-423; VARIANTS GLN-82; GLN-105; THR-361 AND ILE-454; CHARACTERIZATION OF VARIANTS MPS1H/S VAL-79; GLN-238; CYS-363 AND ILE-602; CHARACTERIZATION OF VARIANT MPS1S ARG-423; CHARACTERIZATION OF VARIANT GLN-82; Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.
Vazna A.; Beesley C.; Berna L.; Stolnaja L.; Myskova H.; Bouckova M.; Vlaskova H.; Poupetova H.; Zeman J.; Magner M.; Hlavata A.; Winchester B.; Hrebicek M.; Dvorakova L.;
Am. J. Med. Genet. A 149A:965-974(2009)
Cited for: VARIANTS MPS1H TYR-315; PRO-327 AND PHE-620; CHARACTERIZATION OF VARIANTS MPS1H TYR-315 AND PHE-620; VARIANT MPS1S ARG-380; VARIANTS GLN-33; GLN-105; THR-361 AND ILE-454; IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel alpha-L-iduronidase (IDUA) alleles.
Bertola F.; Filocamo M.; Casati G.; Mort M.; Rosano C.; Tylki-Szymanska A.; Tuysuz B.; Gabrielli O.; Grossi S.; Scarpa M.; Parenti G.; Antuzzi D.; Dalmau J.; Di Rocco M.; Vici C.D.; Okur I.; Rosell J.; Rovelli A.; Furlan F.; Rigoldi M.; Biondi A.; Cooper D.N.; Parini R.;
Hum. Mutat. 32:E2189-E2210(2011)
Cited for: VARIANTS MPS1H/S ARG-84; LYS-178; LEU-188; ARG-265; LYS-276; PRO-396; ARG-423; PRO-436; ARG-496; ARG-533 AND PHE-535; VARIANTS MPS1H ASP-51; PRO-103; PRO-327 AND ARG-385; VARIANTS MPS1S CYS-76; TRP-89; GLU-219; LYS-276; LEU-306; LYS-348; PRO-490 AND PRO-492; VARIANTS GLN-33; GLN-105; THR-361; ASN-449; ILE-454 AND THR-591;
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.