MFMD

Search

Browse the database

By Disease
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]

By Gene
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Last update

21/6/2017

Gene: cathepsin C; CTSC

Gene Symbol: CTSC
OMIM: 602365
Chromosome location: 11q14.2

Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD

Papillon-Lefevre syndrome || c.815G>C

Phenotype:	Papillon-Lefevre syndrome
Dna Change:	c.815G>C
Protein Change:	p.Arg272Pro
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 6
Transcript:	NM_001814.4

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Lebanon	NA	NA	1 family	NA	Kurban M et al., 2009Kurban M, Wajid M, Shimomura Y, Bahhady R, Kibbi AG, Christiano AM, . Evidence for a founder mutation in the cathepsin C gene in three families with Papillon-Lefèvre syndrome.. Dermatology (Basel). 2009; 219(4):289-94

References

Kurban M, Wajid M, Shimomura Y, Bahhady R, Kibbi AG, Christiano AM, Evidence for a founder mutation in the cathepsin C gene in three families with Papillon-Lefèvre syndrome.Dermatology (Basel). 2009; 219(4):289-94

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: cathepsin C; CTSC

References