ABCD1 p.Ala61Gly
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 11258197
[PubMed]
Kerb R et al: "ABC drug transporters: hereditary polymorphisms and pharmacological impact in MDR1, MRP1 and MRP2."
No.
Sentence
Comment
97
SNP Region N Frequency of SNPs (%) Effect Heterozygous Homozygous Observed Estimated T-12C E1 85 11.8 0 0.4 Non-coding G-1A E2 188 11.2 0 0.4 TL initiation A61G E2 188 17.6 0.5 0.81 Asn21Asp G-25T I4 85 26 3.5 2.3 G-35C I4 85 1.2 0 0.01 # T307C E5 85 1.2 0 0.01 Phe103Leu C+139T I5 85 48.2 16.5 16.8 C+145T I5 85 2.4 0 0.01 G1199A E11 85 12.9 0 0.4 Ser400Asn C1236T E12 188 48.9 13.3 14.4 Gly412Gly # C+44T I12 188 11.7 0 0.4 T-76A I16 85 45.9 22.4 20.3 A+137G I17 85 1.2 0 0.01 G2677T E21 83b 43.4 42.2 38.4 Ala893Ser G2995A E24 36b 11.1 38.4 Ala999Thr C3435T E26 537 47.7 26.4 24.1 Ile1145Ile C3396T E26 188 0.53 0 0.01 Wobble § MDR1 sequences gb:AC002457 and AC005068 are defined as 'wild type`.
X
ABCD1 p.Ala61Gly 11258197:97:156
status: NEW106 A61G leads to the replacement of Asn by Asp at position 21 resulting in a net charge change (basic to acidic) close to the N-terminus of PGP.
X
ABCD1 p.Ala61Gly 11258197:106:0
status: NEW
No.
Sentence
Comment
52
The SNPs at positions A61G (Asn21Asp), C1236T, and C3435T had been reported previously (23, 26).
X
ABCD1 p.Ala61Gly 12359865:52:22
status: NEW68 The A61G mutation (Asn21Asp) results in a net charge change (basic to acidic) close to the N-terminus of P-glycoprotein, which appears to be of minor functional importance if recombinant mutational analyses of P-glycoprotein are considered (6).
X
ABCD1 p.Ala61Gly 12359865:68:4
status: NEW