mlh-1 (GeneID: 176783) | Caenorhabditis elegans
Description:MLH (MutL Homolog) family [Source:UniProtKB/TrEMBL;Acc:Q9XU10]
Synonyms: T28A8.7
Other ID(s): WBGene00003373
Protein Accession Numbers: NP_499796
Statistics: gnomAD(51) dbSNP(4)
gnomAD Variants By Annotation

+Please click the name of species for the protein accession number used in the alignment.
+A * (asterisk) 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:
+If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000231790 NP_000240 NP_001161089 NP_001161090 NP_001161091 NP_001245200 NP_001245202 NP_001245203


insert_chartAmino Acid Conservation Percentage (Human versus Organisms with ClinVar and gnomAD Data)

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 Name filter_list Description filter_list Type filter_list Positions filter_list BitScore filter_list E-Value filter_list Clan filter_list
NO RESULT FOUND
DNA_mis_repair DNA mismatch repair protein, C-terminal domain Family 10-57 23 4.7e-05 CL0329

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
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