Gene Variant Detail

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Gene MLH1
Variant E71del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions MLH1 E71del results in the deletion of an amino acid within the ATPase domain of the Mlh1 protein (PMID: 22753075) at amino acid 71. E71del confers a loss of function on the Mlh1 protein as demonstrated by reduced mismatch repair activity (MMR) in an in vitro assay and altered subcellular localization as compared to wild-type (PMID: 21120944).
Associated Drug Resistance

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Transcript NM_000249.3
gDNA chr3:g.37000960_37000962delAGA
cDNA c.213_215delAGA
Protein p.E71delE
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000249.3 chr3:g.37000960_37000962delAGA c.213_215delAGA p.E71delE RefSeq GRCh38/hg38
NM_001354621.1 chr3:g.37025832_37025834delGTC c.211_213delGTC p.V71delV RefSeq GRCh38/hg38
NM_001354626.1 chr3:g.37025886_37025888delGAG c.214_216delGAG p.E72delE RefSeq GRCh38/hg38
NM_001354618.1 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001354616.1 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
XM_005265164 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001354617.1 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
XM_005265161 chr3:g.37000960_37000962delAGA c.213_215delAGA p.E71delE RefSeq GRCh38/hg38
NM_001354628.1 chr3:g.37000960_37000962delAGA c.213_215delAGA p.E71delE RefSeq GRCh38/hg38
NM_001258273 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001354629.1 chr3:g.37004404_37004406delTTG c.211_213delTTG p.L71delL RefSeq GRCh38/hg38
NM_001354623.1 chr3:g.37025832_37025834delGTC c.211_213delGTC p.V71delV RefSeq GRCh38/hg38
XM_011533727 chr3:g.37025886_37025888delGAG c.214_216delGAG p.E72delE RefSeq GRCh38/hg38
NM_001167617 chr3:g.37008865_37008867delCCA c.211_213delCCA p.P71delP RefSeq GRCh38/hg38
NM_001354615.1 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001258271 chr3:g.37000960_37000962delAGA c.213_215delAGA p.E71delE RefSeq GRCh38/hg38
XM_017006450.2 chr3:g.37025832_37025834delGTC c.211_213delGTC p.V71delV RefSeq GRCh38/hg38
NM_001354619.1 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001354624.1 chr3:g.37025886_37025888delGAG c.214_216delGAG p.E72delE RefSeq GRCh38/hg38
NM_001354620.1 chr3:g.37008865_37008867delCCA c.211_213delCCA p.P71delP RefSeq GRCh38/hg38
XM_017006450 chr3:g.37025832_37025834delGTC c.211_213delGTC p.V71delV RefSeq GRCh38/hg38
NM_001354625.1 chr3:g.37025886_37025888delGAG c.214_216delGAG p.E72delE RefSeq GRCh38/hg38
NM_000249 chr3:g.37000960_37000962delAGA c.213_215delAGA p.E71delE RefSeq GRCh38/hg38
XM_017006451 chr3:g.37025886_37025888delGAG c.214_216delGAG p.E72delE RefSeq GRCh38/hg38
NM_001354627.1 chr3:g.37025886_37025888delGAG c.214_216delGAG p.E72delE RefSeq GRCh38/hg38
XM_005265163 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001167618 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001167619.2 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001258274.2 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001258273.1 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
XM_005265166 chr3:g.37025832_37025834delGTC c.211_213delGTC p.V71delV RefSeq GRCh38/hg38
NM_001258271.1 chr3:g.37000960_37000962delAGA c.213_215delAGA p.E71delE RefSeq GRCh38/hg38
NM_001354630.1 chr3:g.37000960_37000962delAGA c.213_215delAGA p.E71delE RefSeq GRCh38/hg38
NM_001167619 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001167617.2 chr3:g.37008865_37008867delCCA c.211_213delCCA p.P71delP RefSeq GRCh38/hg38
XM_005265161.2 chr3:g.37000960_37000962delAGA c.213_215delAGA p.E71delE RefSeq GRCh38/hg38
XM_017006449 chr3:g.37025832_37025834delGTC c.211_213delGTC p.V71delV RefSeq GRCh38/hg38
NM_001354622.1 chr3:g.37025832_37025834delGTC c.211_213delGTC p.V71delV RefSeq GRCh38/hg38
NM_001167618.2 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38
NM_001258274 chr3:g.37020359_37020361delCAT c.211_213delCAT p.H71delH RefSeq GRCh38/hg38

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MLH1 inact mut colorectal cancer not applicable N/A Preclinical Emerging In a preclinical study, MLH1 inactivation through hypermethylation was associated with high microsatellite instability (MSI-H) colorectal carcinoma by whole genome sequencing of tumor samples (PMID: 22810696), suggesting it may be a potential biomarker. 22810696
MLH1 mutant stomach cancer not applicable N/A Guideline Risk Factor Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of early onset of gastric cancer (NCCN.org). detail...
MLH1 mutant rectum cancer not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colorectal cancer (NCCN.org). detail...
MLH1 mutant pancreatic cancer not applicable N/A Guideline Risk Factor Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of developing pancreatic cancer (NCCN.org). detail...
MLH1 mutant small intestine adenocarcinoma not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing small bowel adenocarcinoma (NCCN.org). detail...
MLH1 mutant colon cancer not applicable N/A Guideline Risk Factor Lynch syndrome results from germline mutations in DNA mismatch repair genes including MLH1, MSH2, MSH6, and PMS2, and is associated with increased risk of developing colon cancer (NCCN.org). detail...
MLH1 mutant endometrial carcinoma not applicable N/A Guideline Risk Factor Germline mutations in MLH1 result in Lynch syndrome, which is associated with increased risk of developing endometrial carcinoma (NCCN.org). detail...
Molecular Profile Protein Effect Treatment Approaches
MLH1 E71del loss of function