Gene Locus : human-CTSA
Mode of mutation : Natural mutant
Disease : Galactosialidosis
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment : p.Q49R Gln49Arg (p.Q21R Gln21Arg in the mature protein without signal peptide) rs137854541
| Title : The atomic model of the human protective protein\/cathepsin A suggests a structural basis for galactosialidosis - Rudenko_1998_Proc.Natl.Acad.Sci.U.S.A_95_621 |
| Author(s) : Rudenko G , Bonten E , Hol WG , d'Azzo A |
| Ref : Proceedings of the National Academy of Sciences of the United States of America , 95 :621 , 1998 |
| Abstract : Rudenko_1998_Proc.Natl.Acad.Sci.U.S.A_95_621 |
| ESTHER : Rudenko_1998_Proc.Natl.Acad.Sci.U.S.A_95_621 |
| PubMedSearch : Rudenko_1998_Proc.Natl.Acad.Sci.U.S.A_95_621 |
| PubMedID: 9435242 |
| Gene_locus related to this paper: human-CTSA , mouse-Ppgb |
| Title : Protective protein gene mutations in galactosialidosis - Shimmoto_1993_J.Clin.Invest_91_2393 |
| Author(s) : Shimmoto M , Fukuhara Y , Itoh K , Oshima A , Sakuraba H , Suzuki Y |
| Ref : J Clinical Investigation , 91 :2393 , 1993 |
| Abstract : Shimmoto_1993_J.Clin.Invest_91_2393 |
| ESTHER : Shimmoto_1993_J.Clin.Invest_91_2393 |
| PubMedSearch : Shimmoto_1993_J.Clin.Invest_91_2393 |
| PubMedID: 8514852 |
| Gene_locus related to this paper: human-CTSA |