RGD:14694440 Rat Genome Database

Variant: RGD:14694440 - Homo sapiens

RGD ID:

14694440

RS ID:

rs756347993

ClinVar ID:

CV616860

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

MLH1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	3	37,067,152
GRCh38	3	37,025,661

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_000249.3:c.1063C>G NP_001161090.1:p.Pro114Ala NP_001161091.1:p.Pro114Ala NC_000003.12:g.37025661C>G More...	09/08/2020	5 prime utr variant	uncertain significance	Cancer predisposition; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; Tumor predisposition

Disease Annotations Click to see Annotation Detail View

Hereditary Neoplastic Syndromes (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	MLH1
Accession:	NM_001354625
Location:	5UTRS;EXON

Gene Symbol:	MLH1
Accession:	NM_001354624
Location:	5UTRS;EXON

Gene Symbol:	MLH1
Accession:	NM_001354626
Location:	5UTRS;EXON

Gene Symbol:	MLH1
Accession:	NM_001354627
Location:	5UTRS;EXON

Gene Symbol:	MLH1
Accession:	NM_001167619
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	114

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNGYISNANYSVKKCIFLLFINHRLVESTSLRKAIETVYAAYLPKNTHPFLYLSLEISPQNVDVNVHPTKHEVHFLHEES ILERVQQHIESKLLGSNSSRMYFTQTLLPGLAGASGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLS KPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVEM VEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFY QILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPL LIDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVY KALRSHILPPKHFTEDGNILQLANLPDLYKVFERC*

Gene Symbol:	MLH1
Accession:	NM_001167618
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	114

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNGYISNANYSVKKCIFLLFINHRLVESTSLRKAIETVYAAYLPKNTHPFLYLSLEISPQNVDVNVHPTKHEVHFLHEES ILERVQQHIESKLLGSNSSRMYFTQTLLPGLAGASGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLS KPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVEM VEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFY QILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPL LIDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVY KALRSHILPPKHFTEDGNILQLANLPDLYKVFERC*

Gene Symbol:	MLH1
Accession:	XM_047448153
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	114

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNGYISNANYSVKKCIFLLFINHRLVESTSLRKAIETVYAAYLPKNTHPFLYLSLEISPQNVDVNVHPTKHEVHFLHEES ILERVQQHIESKLLGSNSSRMYFTQTLLPGLAGASGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLS KPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVEM VEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFY QILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPL LIDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVY KALRSHILPPKHFTEDGNILQLANLPDLYKVFERC*

Gene Symbol:	MLH1
Accession:	NM_001354615
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	114

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNGYISNANYSVKKCIFLLFINHRLVESTSLRKAIETVYAAYLPKNTHPFLYLSLEISPQNVDVNVHPTKHEVHFLHEES ILERVQQHIESKLLGSNSSRMYFTQTLLPGLAGASGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLS KPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVEM VEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFY QILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPL LIDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVY KALRSHILPPKHFTEDGNILQLANLPDLYKVFERC*

Gene Symbol:	MLH1
Accession:	NM_001354616
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	114

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNGYISNANYSVKKCIFLLFINHRLVESTSLRKAIETVYAAYLPKNTHPFLYLSLEISPQNVDVNVHPTKHEVHFLHEES ILERVQQHIESKLLGSNSSRMYFTQTLLPGLAGASGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLS KPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVEM VEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFY QILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPL LIDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVY KALRSHILPPKHFTEDGNILQLANLPDLYKVFERC*

Gene Symbol:	MLH1
Accession:	NM_001354621
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	14

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYFTQTLLPGLAGASGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQAIVTEDKTDISS GRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRRRII NLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFYQILIYDFANFGVLRLSEPAP LFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLLIDNYVPPLEGLPIFILRLA TEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVYKALRSHILPPKHFTEDGNIL QLANLPDLYKVFERC*

Gene Symbol:	MLH1
Accession:	NM_001258273
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	114

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNGYISNANYSVKKCIFLLFINHRLVESTSLRKAIETVYAAYLPKNTHPFLYLSLEISPQNVDVNVHPTKHEVHFLHEES ILERVQQHIESKLLGSNSSRMYFTQTLLPGLAGASGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLS KPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVEM VEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFY QILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPL LIDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVY KALRSHILPPKHFTEDGNILQLANLPDLYKVFERC*

Gene Symbol:	MLH1
Accession:	NM_001354622
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	14

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYFTQTLLPGLAGASGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQAIVTEDKTDISS GRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRRRII NLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFYQILIYDFANFGVLRLSEPAP LFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLLIDNYVPPLEGLPIFILRLA TEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVYKALRSHILPPKHFTEDGNIL QLANLPDLYKVFERC*

Gene Symbol:	MLH1
Accession:	NM_001354629
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	322

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSFVAGVIRRLDETVVNRIAAGEVIQRPANAIKEMIENCLDAKSTSIQVIVKEGGLKLIQIQDNGTGIRALASISHVAHV TITTKTADGKCAYRASYSDGKLKAPPKPCAGNQGTQITVEDLFYNIATRRKALKNPSEEYGKILEVVGRYSVHNAGISFS VKKQGETVADVRTLPNASTVDNIRSIFGNAVSRELIEIGCEDKTLAFKMNGYISNANYSVKKCIFLLFINHRLVESTSLR KAIETVYAAYLPKNTHPFLYLSLEISPQNVDVNVHPTKHEVHFLHEESILERVQQHIESKLLGSNSSRMYFTQTLLPGLA GASGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQAIVTEDKTDISSGRARQQDEEMLE LPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRRRIINLTSVLSLQEEI NEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFYQILIYDFANFGVLRLSEPAPLFDLAMLALDSP ESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLLIDNYVPPLEGLPIFILRLATEVNWDEEKECF ESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVYKALRSHILPPKHFTEDGNILQLANLPDLYKVF ERC*

Gene Symbol:	MLH1
Accession:	NM_001258271
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	355

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSFVAGVIRRLDETVVNRIAAGEVIQRPANAIKEMIENCLDAKSTSIQVIVKEGGLKLIQIQDNGTGIRKEDLDIVCERF TTSKLQSFEDLASISTYGFRGEALASISHVAHVTITTKTADGKCAYRASYSDGKLKAPPKPCAGNQGTQITVEDLFYNIA TRRKALKNPSEEYGKILEVVGRYSVHNAGISFSVKKQGETVADVRTLPNASTVDNIRSIFGNAVSRELIEIGCEDKTLAF KMNGYISNANYSVKKCIFLLFINHRLVESTSLRKAIETVYAAYLPKNTHPFLYLSLEISPQNVDVNVHPTKHEVHFLHEE SILERVQQHIESKLLGSNSSRMYFTQTLLPGLAGASGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPL SKPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVE MVEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELF YQILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDESEVPGSIP NSWKWTVEHIVYKALRSHILPPKHFTEDGNILQLANLPDLYKVFERC*

Gene Symbol:	MLH1
Accession:	XM_047448152
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	322

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVPLTNLDAKSTSIQVIVKEGGLKLIQIQDNGTGIRKEDLDIVCERFTTSKLQSFEDLASISTYGFRGEALASISHVAHV TITTKTADGKCAYRASYSDGKLKAPPKPCAGNQGTQITVEDLFYNIATRRKALKNPSEEYGKILEVVGRYSVHNAGISFS VKKQGETVADVRTLPNASTVDNIRSIFGNAVSRELIEIGCEDKTLAFKMNGYISNANYSVKKCIFLLFINHRLVESTSLR KAIETVYAAYLPKNTHPFLYLSLEISPQNVDVNVHPTKHEVHFLHEESILERVQQHIESKLLGSNSSRMYFTQTLLPGLA GASGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQAIVTEDKTDISSGRARQQDEEMLE LPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRRRIINLTSVLSLQEEI NEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFYQILIYDFANFGVLRLSEPAPLFDLAMLALDSP ESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLLIDNYVPPLEGLPIFILRLATEVNWDEEKECF ESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVYKALRSHILPPKHFTEDGNILQLANLPDLYKVF ERC*

Gene Symbol:	MLH1
Accession:	XM_047448155
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	114

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNGYISNANYSVKKCIFLLFINHRLVESTSLRKAIETVYAAYLPKNTHPFLYLSLEISPQNVDVNVHPTKHEVHFLHEES ILERVQQHIESKLLGSNSSRMYFTQTLLPGLAGASGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLS KPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVEM VEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFY QILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPL LIDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVY KALRSHILPPKHFTEDGNILQLANLPDLYKVFERC*

Gene Symbol:	MLH1
Accession:	NM_001258274
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	114

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNGYISNANYSVKKCIFLLFINHRLVESTSLRKAIETVYAAYLPKNTHPFLYLSLEISPQNVDVNVHPTKHEVHFLHEES ILERVQQHIESKLLGSNSSRMYFTQTLLPGLAGASGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLS KPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVEM VEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFY QILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPL LIDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVY KALRSHILPPKHFTEDGNILQLANLPDLYKVFERC*

Gene Symbol:	MLH1
Accession:	NM_001354630
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	355

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSFVAGVIRRLDETVVNRIAAGEVIQRPANAIKEMIENCLDAKSTSIQVIVKEGGLKLIQIQDNGTGIRKEDLDIVCERF TTSKLQSFEDLASISTYGFRGEALASISHVAHVTITTKTADGKCAYRASYSDGKLKAPPKPCAGNQGTQITVEDLFYNIA TRRKALKNPSEEYGKILEVVGRYSVHNAGISFSVKKQGETVADVRTLPNASTVDNIRSIFGNAVSRELIEIGCEDKTLAF KMNGYISNANYSVKKCIFLLFINHRLVESTSLRKAIETVYAAYLPKNTHPFLYLSLEISPQNVDVNVHPTKHEVHFLHEE SILERVQQHIESKLLGSNSSRMYFTQTLLPGLAGASGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPL SKPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVE MVEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELF YQILIYDFANFGVLRLSEGNLIGLPLLIDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAMFYSIRKQYISEES TLSGQQSEVPGSIPNSWKWTVEHIVYKALRSHILPPKHFTEDGNILQLANLPDLYKVFERC*

Gene Symbol:	MLH1
Accession:	NM_000249
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	355

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSFVAGVIRRLDETVVNRIAAGEVIQRPANAIKEMIENCLDAKSTSIQVIVKEGGLKLIQIQDNGTGIRKEDLDIVCERF TTSKLQSFEDLASISTYGFRGEALASISHVAHVTITTKTADGKCAYRASYSDGKLKAPPKPCAGNQGTQITVEDLFYNIA TRRKALKNPSEEYGKILEVVGRYSVHNAGISFSVKKQGETVADVRTLPNASTVDNIRSIFGNAVSRELIEIGCEDKTLAF KMNGYISNANYSVKKCIFLLFINHRLVESTSLRKAIETVYAAYLPKNTHPFLYLSLEISPQNVDVNVHPTKHEVHFLHEE SILERVQQHIESKLLGSNSSRMYFTQTLLPGLAGASGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPL SKPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVE MVEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELF YQILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLP LLIDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIV YKALRSHILPPKHFTEDGNILQLANLPDLYKVFERC*

Gene Symbol:	MLH1
Accession:	NM_001354619
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	114

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNGYISNANYSVKKCIFLLFINHRLVESTSLRKAIETVYAAYLPKNTHPFLYLSLEISPQNVDVNVHPTKHEVHFLHEES ILERVQQHIESKLLGSNSSRMYFTQTLLPGLAGASGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLS KPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVEM VEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFY QILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPL LIDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVY KALRSHILPPKHFTEDGNILQLANLPDLYKVFERC*

Gene Symbol:	MLH1
Accession:	NM_001167617
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	257

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAFEALASISHVAHVTITTKTADGKCAYRASYSDGKLKAPPKPCAGNQGTQITVEDLFYNIATRRKALKNPSEEYGKILE VVGRYSVHNAGISFSVKKQGETVADVRTLPNASTVDNIRSIFGNAVSRELIEIGCEDKTLAFKMNGYISNANYSVKKCIF LLFINHRLVESTSLRKAIETVYAAYLPKNTHPFLYLSLEISPQNVDVNVHPTKHEVHFLHEESILERVQQHIESKLLGSN SSRMYFTQTLLPGLAGASGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQAIVTEDKTD ISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRR RIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFYQILIYDFANFGVLRLSE PAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLLIDNYVPPLEGLPIFIL RLATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVYKALRSHILPPKHFTEDG NILQLANLPDLYKVFERC*

Gene Symbol:	MLH1
Accession:	XM_005265161
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	286

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSFVAGVIRRLDETVVNRIAAGEVIQRPANAIKEMIENCLDAKSTSIQVIVKEGGLKLIQIQDNGTGIRKEDLDIVCERF TTSKLQSFEDLASISTYGFRGEALASISHVAHVTITTKTADGKCAYRASYSDGKLKAPPKPCAGNQGTQITVEDLFYNIA TRRKALKNPSEEYGKILEVVGRYSVHNAGISFSVKKQGETVADVRTLPNASTVDNIRSIFGNAVSRLEISPQNVDVNVHP TKHEVHFLHEESILERVQQHIESKLLGSNSSRMYFTQTLLPGLAGASGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSR EQKLDAFLQPLSKPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNP RKRHREDSDVEMVEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYL LNTTKLSEELFYQILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLE IDEEGNLIGLPLLIDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIP NSWKWTVEHIVYKALRSHILPPKHFTEDGNILQLANLPDLYKVFERC*

Gene Symbol:	MLH1
Accession:	NM_001354620
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	257

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAFEALASISHVAHVTITTKTADGKCAYRASYSDGKLKAPPKPCAGNQGTQITVEDLFYNIATRRKALKNPSEEYGKILE VVGRYSVHNAGISFSVKKQGETVADVRTLPNASTVDNIRSIFGNAVSRELIEIGCEDKTLAFKMNGYISNANYSVKKCIF LLFINHRLVESTSLRKAIETVYAAYLPKNTHPFLYLSLEISPQNVDVNVHPTKHEVHFLHEESILERVQQHIESKLLGSN SSRMYFTQTLLPGLAGASGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQAIVTEDKTD ISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRR RIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFYQILIYDFANFGVLRLSE PAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLLIDNYVPPLEGLPIFIL RLATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVYKALRSHILPPKHFTEDG NILQLANLPDLYKVFERC*

Gene Symbol:	MLH1
Accession:	NM_001354617
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	114

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNGYISNANYSVKKCIFLLFINHRLVESTSLRKAIETVYAAYLPKNTHPFLYLSLEISPQNVDVNVHPTKHEVHFLHEES ILERVQQHIESKLLGSNSSRMYFTQTLLPGLAGASGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLS KPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVEM VEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFY QILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPL LIDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVY KALRSHILPPKHFTEDGNILQLANLPDLYKVFERC*

Gene Symbol:	MLH1
Accession:	NM_001354618
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	114

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNGYISNANYSVKKCIFLLFINHRLVESTSLRKAIETVYAAYLPKNTHPFLYLSLEISPQNVDVNVHPTKHEVHFLHEES ILERVQQHIESKLLGSNSSRMYFTQTLLPGLAGASGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLS KPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVEM VEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFY QILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPL LIDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVY KALRSHILPPKHFTEDGNILQLANLPDLYKVFERC*

Gene Symbol:	MLH1
Accession:	NM_001354628
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	355

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSFVAGVIRRLDETVVNRIAAGEVIQRPANAIKEMIENCLDAKSTSIQVIVKEGGLKLIQIQDNGTGIRKEDLDIVCERF TTSKLQSFEDLASISTYGFRGEALASISHVAHVTITTKTADGKCAYRASYSDGKLKAPPKPCAGNQGTQITVEDLFYNIA TRRKALKNPSEEYGKILEVVGRYSVHNAGISFSVKKQGETVADVRTLPNASTVDNIRSIFGNAVSRELIEIGCEDKTLAF KMNGYISNANYSVKKCIFLLFINHRLVESTSLRKAIETVYAAYLPKNTHPFLYLSLEISPQNVDVNVHPTKHEVHFLHEE SILERVQQHIESKLLGSNSSRMYFTQTLLPGLAGASGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPL SKPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVE MVEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELF YQILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEVNWDEEKE CFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVYKALRSHILPPKHFTEDGNILQLANLPDLYK VFERC*

Gene Symbol:	MLH1
Accession:	XM_047448154
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	114

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNGYISNANYSVKKCIFLLFINHRLVESTSLRKAIETVYAAYLPKNTHPFLYLSLEISPQNVDVNVHPTKHEVHFLHEES ILERVQQHIESKLLGSNSSRMYFTQTLLPGLAGASGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLS KPLSSQPQAIVTEDKTDISSGRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVEM VEDDSRKEMTAACTPRRRIINLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFY QILIYDFANFGVLRLSEPAPLFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPL LIDNYVPPLEGLPIFILRLATEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVY KALRSHILPPKHFTEDGNILQLANLPDLYKVFERC*

Gene Symbol:	MLH1
Accession:	NM_001354623
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	14

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYFTQTLLPGLAGASGEMVKSTTSLTSSSTSGSSDKVYAHQMVRTDSREQKLDAFLQPLSKPLSSQPQAIVTEDKTDISS GRARQQDEEMLELPAPAEVAAKNQSLEGDTTKGTSEMSEKRGPTSSNPRKRHREDSDVEMVEDDSRKEMTAACTPRRRII NLTSVLSLQEEINEQGHEVLREMLHNHSFVGCVNPQWALAQHQTKLYLLNTTKLSEELFYQILIYDFANFGVLRLSEPAP LFDLAMLALDSPESGWTEEDGPKEGLAEYIVEFLKKKAEMLADYFSLEIDEEGNLIGLPLLIDNYVPPLEGLPIFILRLA TEVNWDEEKECFESLSKECAMFYSIRKQYISEESTLSGQQSEVPGSIPNSWKWTVEHIVYKALRSHILPPKHFTEDGNIL QLANLPDLYKVFERC*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000777050	CLINVAR
dbSNP (RS)	rs756347993	CLINVAR
MedGen	C0027672	CLINVAR
NCBI Gene	MLH1	CLINVAR
OMIM	120436	CLINVAR
SNOMED CT	699346009	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

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InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:14694440 - Homo sapiens

Imported Disease Annotations - ClinVar