MLH1 (GeneID: 4292) | Homo sapiens
Description: mutL homolog 1 [Source:HGNC Symbol;Acc:HGNC:7127]
Synonyms: HNPCC, COCA2, hMLH1, HNPCC2, FCC2
Other ID(s): HGNC:7127, ENSG00000076242
Protein Accession Numbers: ENST00000441265, ENST00000458009, NP_001245200, NP_001341549, NP_001341557, ENST00000429117, ENST00000455445, NP_001161089, NP_001341546, NP_001341554, ENST00000231790.2, ENST00000447829, ENST00000536378, NP_001245203, NP_001341551, NP_001341559, ENST00000435176, ENST00000457004, NP_001161091, NP_001341548, NP_001341556, ENST00000413740, ENST00000454028, NP_000240, NP_001341545, NP_001341553, ENST00000231790, ENST00000442249, ENST00000458205, NP_001245202, NP_001341550, NP_001341558, ENST00000432299, ENST00000456676, NP_001161090, NP_001341547, NP_001341555, ENST00000413212, ENST00000450420, ENST00000539477, NP_001341544, NP_001341552
Statistics: ClinVar(3146) gnomAD(564) COSMIC(589) PTM(47)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000231790 ENST00000413212 ENST00000413740 ENST00000429117 ENST00000432299 ENST00000435176 You are here now! ENST00000441265 ENST00000442249 ENST00000447829 ENST00000450420 ENST00000454028 ENST00000455445 ENST00000456676 ENST00000457004 ENST00000458009 ENST00000458205 ENST00000536378 ENST00000539477 NP_000240 NP_001161089 You are here now! NP_001161090 NP_001161091 NP_001245200 NP_001245202 NP_001245203 NP_001341544


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF01119 DNA_mis_repair DNA mismatch repair protein, C-terminal domain 216-335 CL0329 S5 Homo sapiens
PF13589 HATPase_c_3 Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase 26-137 CL0025 His_Kinase_A Homo sapiens
PF16413 Mlh1_C DNA mismatch repair protein Mlh1 C-terminus 502-756 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Malignant Neoplasms Neoplasms ; 0.424 0.759
Malignant tumor of colon Neoplasms ; Digestive System Diseases ; 0.424 0.759
Malignant neoplasm of endometrium N/A 0.424 0.759
Colonic Neoplasms Neoplasms ; Digestive System Diseases ; 0.424 0.759
Colorectal Carcinoma Neoplasms ; Digestive System Diseases ; 0.424 0.759
Colorectal Neoplasms Neoplasms ; Digestive System Diseases ; 0.424 0.759
Hereditary Nonpolyposis Colorectal Neoplasms Neoplasms ; Digestive System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.424 0.759
Gastrointestinal Neoplasms Neoplasms ; Digestive System Diseases ; 0.424 0.759
Lymphoma Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ; 0.424 0.759
Malignant neoplasm of stomach Neoplasms ; Digestive System Diseases ; 0.424 0.759
Neoplasm Metastasis Neoplasms ; Pathological Conditions, Signs and Symptoms ; 0.424 0.759
Neurofibromatosis 1 Neoplasms ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.424 0.759
Ovarian Carcinoma N/A 0.424 0.759
Prostatic Neoplasms Neoplasms ; Male Urogenital Diseases ; 0.424 0.759
Central Nervous System Neoplasms Neoplasms ; Nervous System Diseases ; 0.424 0.759
Adenocarcinoma of lung (disorder) Neoplasms ; Respiratory Tract Diseases ; 0.424 0.759
Malignant neoplasm of brain Neoplasms ; Nervous System Diseases ; 0.424 0.759
Turcot syndrome (disorder) Neoplasms ; Digestive System Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.424 0.759
Gastric Adenocarcinoma N/A 0.424 0.759
Breast Cancer, Familial Neoplasms ; Skin and Connective Tissue Diseases ; 0.424 0.759
Carcinoma in situ of endometrium N/A 0.424 0.759
Malignant Central Nervous System Neoplasm N/A 0.424 0.759
Malignant neoplasm of prostate Neoplasms ; Male Urogenital Diseases ; 0.424 0.759
Hematologic Neoplasms Neoplasms ; Hemic and Lymphatic Diseases ; 0.424 0.759
Endometrial Carcinoma Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; 0.424 0.759
Neoplasm of uncertain or unknown behavior of ovary N/A 0.424 0.759
Colon Carcinoma N/A 0.424 0.759
ovarian neoplasm Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ; 0.424 0.759
Hereditary non-polyposis colorectal cancer syndrome N/A 0.424 0.759
Malignant neoplasm of ovary Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ; 0.424 0.759
Adenocarcinoma of large intestine N/A 0.424 0.759
Torre-Muir syndrome Neoplasms ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.424 0.759
Hereditary Nonpolyposis Colorectal Cancer Neoplasms ; Digestive System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; 0.424 0.759
Hereditary Non-Polyposis Colon Cancer Type 2 Neoplasms ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.424 0.759
Colorectal Cancer Neoplasms ; Digestive System Diseases ; 0.424 0.759
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.424 0.759
NO RESULT FOUND
feedback