RGD:156196031 Rat Genome Database

RGD:156196031 Rat Genome Database

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Variant: RGD:156196031 - Homo sapiens

RGD ID:

156196031

ClinVar ID:

CV2099214

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

MTO1

Reference Nucleotide:

A

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	6	74,189,491
GRCh38	6	73,479,768

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001123226.2:c.862A>C NM_012123.4:c.862A>C NM_133645.3:c.862A>C NG_032856.3:g.23033A>C More...	12/27/2021	missense variant	uncertain significance	CARDIOMYOPATHY, INFANTILE HYPERTROPHIC MITOCHONDRIAL, AND LACTIC ACIDOSIS; Combined oxidative phosphorylation deficiency 10

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2099214	Human	combined oxidative phosphorylation deficiency 10		IAGP		8554872	ClinVar Annotator: match by term: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	ClinVar	PMID:28492532

Gene Symbol:	MTO1
Accession:	NM_133645
Location:	EXON
Amino Acid Prediction:	N to H (nonsynonymous)
Amino Acid Position:	288

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFYFRGCGRWVAVSFTKQQFPLARLSSDSAAPRTPHFDVIVIGGGHAGTEAATAAARCGSRTLLLTHRVDTIGQMSCNPS FGGIGKGHLMREVDALDGLCSRICDQSGVHYKVLNRRKGPAVWGLRAQIDRKLYKQNMQKEILNTPLLTVQEGAVEDLIL TEPEPEHTGKCRVSGVVLVDGSTVYAESVILTTGTFLRGMIVIGLETHPAGRLGDQPSIGLAQTLEKLGFVVGRLKTGTP PRIAKESINFSILNKHIPDNPSIPFSFTNETVWIKPEDQLPCYLTHTHPRVDEIVLKNLHLNSHVKETTRGPRYCPSIES KVLRFPNRLHQVWLEPEGMDSDLIYPQGLSMTLPAELQEKMITCIRGLEKAKVIQPDGVLLLLPRMECNGAISAHHNLPL PGYGVQYDYLDPRQITPSLETHLVQRLFFAGQINGTTGYEEAAAQGVIAGINASLRVSRKPPFVVSRTEGYIGVLIDDLT TLGTSEPYRMFTSRVEFRLSLRPDNADSRLTLRGYKDAGCVSQQRYERACWMKSSLEEGISVLKSIEFLSSKWKKLIPEA SISTSRSLPVRALDVLKYEEVDMDSLAKAVPEPLKKYTKCRELAERLKIEATYESVLFHQLQEIKGVQQDEALQLPKDLD YLTIRDVSLSHEVREKLHFSRPQTIGAASRIPGVTPAAIINLLRFVKTTQRRQSAMNESSKTDQYLCDADRLQEREL*

Gene Symbol:	MTO1
Accession:	XM_047418606
Location:	EXON
Amino Acid Prediction:	N to H (nonsynonymous)
Amino Acid Position:	288

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFYFRGCGRWVAVSFTKQQFPLARLSSDSAAPRTPHFDVIVIGGGHAGTEAATAAARCGSRTLLLTHRVDTIGQMSCNPS FGGIGKGHLMREVDALDGLCSRICDQSGVHYKVLNRRKGPAVWGLRAQIDRKLYKQNMQKEILNTPLLTVQEGAVEDLIL TEPEPEHTGKCRVSGVVLVDGSTVYAESVILTTGTFLRGMIVIGLETHPAGRLGDQPSIGLAQTLEKLGFVVGRLKTGTP PRIAKESINFSILNKHIPDNPSIPFSFTNETVWIKPEDQLPCYLTHTHPRVDEIVLKNLHLNSHVKETTRGPRYCPSIES KVLRFPNRLHQVWLEPEGMDSDLIYPQGLSMTLPAELQEKMITCIRGLEKAKVIQPGYGVQYDYLDPRQITPSLETHLVQ RLFFAGQINGTTGYEEAAAQCSCRV*

Gene Symbol:	MTO1
Accession:	XM_047418607
Location:	EXON
Amino Acid Prediction:	N to H (nonsynonymous)
Amino Acid Position:	288

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFYFRGCGRWVAVSFTKQQFPLARLSSDSAAPRTPHFDVIVIGGGHAGTEAATAAARCGSRTLLLTHRVDTIGQMSCNPS FGGIGKGHLMREVDALDGLCSRICDQSGVHYKVLNRRKGPAVWGLRAQIDRKLYKQNMQKEILNTPLLTVQEGAVEDLIL TEPEPEHTGKCRVSGVVLVDGSTVYAESVILTTGTFLRGMIVIGLETHPAGRLGDQPSIGLAQTLEKLGFVVGRLKTGTP PRIAKESINFSILNKHIPDNPSIPFSFTNETVWIKPEDQLPCYLTHTHPRVDEIVLKNLHLNSHVKETTRGPRYCPSIES KVLRFPNRLHQVWLEPEGMDSDLIYPQGLSMTLPAELQEKMITCIRGLEKAKVIQPGWSAMVRSRLTTTSPCQATVFSMI T*

Gene Symbol:	MTO1
Accession:	XM_047418605
Location:	EXON
Amino Acid Prediction:	N to H (nonsynonymous)
Amino Acid Position:	288

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFYFRGCGRWVAVSFTKQQFPLARLSSDSAAPRTPHFDVIVIGGGHAGTEAATAAARCGSRTLLLTHRVDTIGQMSCNPS FGGIGKGHLMREVDALDGLCSRICDQSGVHYKVLNRRKGPAVWGLRAQIDRKLYKQNMQKEILNTPLLTVQEGAVEDLIL TEPEPEHTGKCRVSGVVLVDGSTVYAESVILTTGTFLRGMIVIGLETHPAGRLGDQPSIGLAQTLEKLGFVVGRLKTGTP PRIAKESINFSILNKHIPDNPSIPFSFTNETVWIKPEDQLPCYLTHTHPRVDEIVLKNLHLNSHVKETTRGPRYCPSIES KVLRFPNRLHQVWLEPEGMDSDLIYPQGLSMTLPAELQEKMITCIRGLEKAKVIQPGYGVQYDYLDPRQITPSLETHLVQ RLFFAGQINGTTGYEEAAAQGIKTLAVCPNNDMKELVG*

Gene Symbol:	MTO1
Accession:	NM_012123
Location:	EXON
Amino Acid Prediction:	N to H (nonsynonymous)
Amino Acid Position:	288

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFYFRGCGRWVAVSFTKQQFPLARLSSDSAAPRTPHFDVIVIGGGHAGTEAATAAARCGSRTLLLTHRVDTIGQMSCNPS FGGIGKGHLMREVDALDGLCSRICDQSGVHYKVLNRRKGPAVWGLRAQIDRKLYKQNMQKEILNTPLLTVQEGAVEDLIL TEPEPEHTGKCRVSGVVLVDGSTVYAESVILTTGTFLRGMIVIGLETHPAGRLGDQPSIGLAQTLEKLGFVVGRLKTGTP PRIAKESINFSILNKHIPDNPSIPFSFTNETVWIKPEDQLPCYLTHTHPRVDEIVLKNLHLNSHVKETTRGPRYCPSIES KVLRFPNRLHQVWLEPEGMDSDLIYPQGLSMTLPAELQEKMITCIRGLEKAKVIQPGYGVQYDYLDPRQITPSLETHLVQ RLFFAGQINGTTGYEEAAAQGVIAGINASLRVSRKPPFVVSRTEGYIGVLIDDLTTLGTSEPYRMFTSRVEFRLSLRPDN ADSRLTLRGYKDAGCVSQQRYERACWMKSSLEEGISVLKSIEFLSSKWKKLIPEASISTSRSLPVRALDVLKYEEVDMDS LAKAVPEPLKKYTKCRELAERLKIEATYESVLFHQLQEIKGVQQDEALQLPKDLDYLTIRDVSLSHEVREKLHFSRPQTI GAASRIPGVTPAAIINLLRFVKTTQRRQSAMNESSKTDQYLCDADRLQEREL*

Gene Symbol:	MTO1
Accession:	NM_001123226
Location:	EXON
Amino Acid Prediction:	N to H (nonsynonymous)
Amino Acid Position:	288

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFYFRGCGRWVAVSFTKQQFPLARLSSDSAAPRTPHFDVIVIGGGHAGTEAATAAARCGSRTLLLTHRVDTIGQMSCNPS FGGIGKGHLMREVDALDGLCSRICDQSGVHYKVLNRRKGPAVWGLRAQIDRKLYKQNMQKEILNTPLLTVQEGAVEDLIL TEPEPEHTGKCRVSGVVLVDGSTVYAESVILTTGTFLRGMIVIGLETHPAGRLGDQPSIGLAQTLEKLGFVVGRLKTGTP PRIAKESINFSILNKHIPDNPSIPFSFTNETVWIKPEDQLPCYLTHTHPRVDEIVLKNLHLNSHVKETTRGPRYCPSIES KVLRFPNRLHQVWLEPEGMDSDLIYPQGLSMTLPAELQEKMITCIRGLEKAKVIQPGYGVQYDYLDPRQITPSLETHLVQ RLFFAGQINGTTGYEEAAAQTECCSVARLECSDMISQLQAILLPQPSLVAGTAGMHHNTQGVIAGINASLRVSRKPPFVV SRTEGYIGVLIDDLTTLGTSEPYRMFTSRVEFRLSLRPDNADSRLTLRGYKDAGCVSQQRYERACWMKSSLEEGISVLKS IEFLSSKWKKLIPEASISTSRSLPVRALDVLKYEEVDMDSLAKAVPEPLKKYTKCRELAERLKIEATYESVLFHQLQEIK GVQQDEALQLPKDLDYLTIRDVSLSHEVREKLHFSRPQTIGAASRIPGVTPAAIINLLRFVKTTQRRQSAMNESSKTDQY LCDADRLQEREL*

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002917618	CLINVAR
MedGen	C4749921	CLINVAR
NCBI Gene	MTO1	CLINVAR
OMIM	614667	CLINVAR
	614702	CLINVAR