ABCMdb

ABCC6 p.Gly1481Ser

None has been submitted yet.

Publications

PMID: 17617515 [PubMed] Pfendner EG et al: "Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum."

No. Sentence Comment

277 Finally, there is the possibility that mutations in genes other than ABCC6 can Nucleotide change*À Predicted consequenceÀ Frequency (alleles) Exon-intron location Domain affected` Mutant alleles (%) References1 c.4041gRc p.Q1347H 1 28 NBF2 0.3 25 c.4104delC FS 1 29 0.3 25 c.4192cRt p.R1398X 2 29 0.6 25 c.4335delG FS 1 30 0.3 c.4441gRa p.G1481S 1 31 NBF2 0.3 c.4501gRa p.G1501S 1 31 NBF2 0.3 Ex23_29del p.A999_S1403del 57 23-29 18.0 15, 18, 21, 25, 27, 28, 31, 32, 37, 44, 45 FS, frameshift; IC, intracellular domain; IVS, intron; NBF, nucleotide binding fold; SJ, splice junction; TM, transmembrane domain. Login to comment