MutL homologue 1 (mismatch repair) Gene symbol : MLH1 Location : 3p

Mutations in this gene were first reported in 1994

Number of entries by mutation type

Click on the respective mutation type to view detailed information about the mutations as logged in HGMD.

Mutation type	Total number of mutations
Nucleotide substitutions (missense / nonsense)	67
Nucleotide substitutions (splicing)	26
Nucleotide substitutions (regulatory)	0
Small deletions	31
Small insertions	13
Small indels	0
Gross deletions	8
Gross insertions & duplications	0
Complex rearrangements (including inversions)	2
Repeat variations	0
TOTAL	147

Number of entries by phenotype

Phenotype	Nucleotide substitutions	Micro-lesions	Gross lesions
Colorectal cancer, non-polyposis	92	42	10
Turcot syndrome	1	0	0
Muir-Torre syndrome	0	1	0
Cystic sebaceous tumour	0	1	0

Clicking on the respective phenotype will start a search for that item at the OMIM web site. As HGMD only records the first literature report of a mutation, the possibility that reported mutations may be responsible for more than one disease state cannot be ruled out.

Associated data - Mutation map cDNA sequence Splice junctions

HGMD options - HGMD search HGMD help HGMD home

External sites - OMIM entry for MLH1 GDB entry for MLH1 GenAtlas entry for MLH1 Nomenclature entry for MLH1 HNPCC mutation database