RGD:13495407 Rat Genome Database

Variant: RGD:13495407 - Homo sapiens

RGD ID:

13495407

RS ID:

rs1553130504

ClinVar ID:

CV448047

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

MUTYH

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	1	45,799,240
GRCh38	1	45,333,568

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_001128425.1:c.193C>T NP_001280120.1:p.Pro48Ser NM_001350650.2:c.-156-7C>T LRG_220p1:p.Pro65Ser More...	02/16/2022	intron variant	uncertain significance	Adenomas, multiple colorectal; ADENOMAS, MULTIPLE COLORECTAL, AUTOSOMAL RECESSIVE; COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE; FAP type 2; MUTYH-associated polyposis; MUTYH-related attenuated familial adenomatous polyposis; MYH-associated polyposis

Disease Annotations Click to see Annotation Detail View

familial adenomatous polyposis 2 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	MUTYH
Accession:	NM_001293192
Location:	5UTRS;INTRON

Gene Symbol:	MUTYH
Accession:	NM_001407091
Location:	5UTRS;INTRON

Gene Symbol:	MUTYH
Accession:	NM_001407082
Location:	5UTRS;INTRON

Gene Symbol:	MUTYH
Accession:	NM_001350651
Location:	5UTRS;INTRON

Gene Symbol:	MUTYH
Accession:	NM_001350650
Location:	5UTRS;INTRON

Gene Symbol:	MUTYH
Accession:	XM_047421204
Location:	5UTRS;INTRON

Gene Symbol:	MUTYH
Accession:	NM_001293196
Location:	5UTRS;INTRON

Gene Symbol:	MUTYH
Accession:	NM_001407085
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	51

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDACAGMIAECPGASAGLARQPEEVVLQASVSSYHLFRDVAEVT AFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQKWPTLQDLASASLEEVNQLW AGLGYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVLCRVRAIGADPS STLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSLSGSPDVEECAP NTGQCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQ LQRKALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHTAAVSTAMKKVF RVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ*

Gene Symbol:	MUTYH
Accession:	XM_047421193
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	54

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAYKAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDGMIAECPGASAGLARQPEEVVLQASVSSYHLFRDVA EVTAFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQKWPTLQDLASASLEEVN QLWAGLGYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVLCRVRAIGA DPSSTLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSLSGSPDVEE CAPNTGQCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEP SEQLQRKALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHTAAVSTAMK KVFRVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ*

Gene Symbol:	MUTYH
Accession:	XM_047421202
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTPLVSRLSRLWAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDACAGMIAECPGASAGLARQPEEVVLQAS VSSYHLFRDVAEVTAFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQKWPTLQ DLASASLEEVNQLWAGLGYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVA RVLCRVRAIGADPSSTLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLAS GSLSGSPDVEECAPNTGQCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAG LWEFPSVTWEPSEQLQRKALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEE FHTAAVSTAMKKVFRVYQGQQPGTCM*

Gene Symbol:	MUTYH
Accession:	XM_047421192
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	54

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAYKAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDGMIAECPGASAGLARQPEEVVLQASVSSYHLFRDVA EVTAFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQKWPTLQDLASASLEEVN QLWAGLGYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVLCRVRAIGA DPSSTLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSLSGSPDVEE CAPNTGQCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEP SEQLQRKALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHTAAVSTAMK KVFRVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ*

Gene Symbol:	MUTYH
Accession:	XM_011541503
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTPLVSRLSRLWAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDACAGMIAECPGASAGLARQPEEVVLQAS VSSYHLFRDVAEVTAFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQEVNQLW AGLGYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVLCRVRAIGADPS STLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSLSGSPDVEECAP NTGQCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQ LQRKALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHTAAVSTAMKKVF RVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ*

Gene Symbol:	MUTYH
Accession:	XM_011541502
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	51

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDACAGMIAECPGASAGLARQPEEVVLQASVSSYHLFRDVAEVT AFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQKWPTLQDLASASLEEVNQLW AGLGYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVLCRVRAIGADPS STLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSLSGSPDVEECAP NTGQCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQ LQRKALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHTAAVSTAMKKVF RVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	62

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTPLVSRLSRLWAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDGMIAECPGASAGLARQPEEVVLQASVSS YHLFRDVAEVTAFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQEVNQLWAGL GYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVLCRVRAIGADPSSTL VSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSLSGSPDVEECAPNTG QCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQLQR KALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHTAAVSTAMKKVFRVY QGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ*

Gene Symbol:	MUTYH
Accession:	XM_047421191
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	54

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAYKAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDGMIAECPGASAGLARQPEEVVLQASVSSYHLFRDVA EVTAFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQKWPTLQDLASASLEEVN QLWAGLGYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVLCRVRAIGA DPSSTLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSLSGSPDVEE CAPNTGQCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEP SEQLQRKALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHTAAVSTAMK KVFRVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ*

Gene Symbol:	MUTYH
Accession:	XM_047421199
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	54

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAYKAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDGMIAECPGASAGLARQPEEVVLQASVSSYHLFRDVA EVTAFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQEVNQLWAGLGYYSRGRR LQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVLCRVRAIGADPSSTLVSQQLWGL AQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSLSGSPDVEECAPNTGQCHLCLPP SEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQLQRKALLQELQ RWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHTAAVSTAMKKVFRVYQGQQPGTC MGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ*

Gene Symbol:	MUTYH
Accession:	NM_001407069
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	62

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTPLVSRLSRLWAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDGMIAECPGASAGLARQPEEVVLQASVSS YHLFRDVAEVTAFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQEVNQLWAGL GYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVLCRVRAIGADPSSTL VSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSLSGSPDVEECAPNTG QCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQLQR KALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHTAAVSTAMKKVFRVY QGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ*

Gene Symbol:	MUTYH
Accession:	XM_011541497
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	57

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAYKAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDACAGMIAECPGASAGLARQPEEVVLQASVSSYHLFR DVAEVTAFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQKWPTLQDLASASLE EVNQLWAGLGYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVLCRVRA IGADPSSTLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSLSGSPD VEECAPNTGQCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVT WEPSEQLQRKALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHTAAVST AMKKVFRVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ*

Gene Symbol:	MUTYH
Accession:	XM_017001333
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	51

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDACAGMIAECPGASAGLARQPEEVVLQASVSSYHLFRDVAEVT AFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQKWPTLQDLASASLEEVNQLW AGLGYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVLCRVRAIGADPS STLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSLSGSPDVEECAP NTGQCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQ LQRKALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHTAAVSTAMKKVF RVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ*

Gene Symbol:	MUTYH
Accession:	NM_001407083
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	51

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDACAGMIAECPGASAGLARQPEEVVLQASVSSYHLFRDVAEVT AFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQKWPTLQDLASASLEEVNQLW AGLGYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVLCRVRAIGADPS STLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSLSGSPDVEECAP NTGQCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQ LQRKALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHTAAVSTAMKKVF RVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ*

Gene Symbol:	MUTYH
Accession:	NM_001407075
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	9

Amino Acid Sequence (Calculated using NCBI transcript definition)
MIAECPGASAGLARQPEEVVLQASVSSYHLFRDVAEVTAFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVM LQQTQVATVINYYTGWMQKWPTLQDLASASLEEVNQLWAGLGYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVG RYTAGAIASIAFGQATGVVDGNVARVLCRVRAIGADPSSTLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPL CSQCPVESLCRARQRVEQEQLLASGSLSGSPDVEECAPNTGQCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCV LEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQLQRKALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVY GLALEGQTPVTTVPPGARWLTQEEFHTAAVSTAMKKVFRVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSH ISTDAHSLNSAAQ*

Gene Symbol:	MUTYH
Accession:	XM_047421194
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	51

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDACAGMIAECPGASAGLARQPEEVVLQASVSSYHLFRDVAEVT AFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQKWPTLQDLASASLEEVNQLW AGLGYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVLCRVRAIGADPS STLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSLSGSPDVEECAP NTGQCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQ LQRKALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHTAAVSTAMKKVF RVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ*

Gene Symbol:	MUTYH
Accession:	NM_001128425
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTPLVSRLSRLWAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDACAGMIAECPGASAGLARQPEEVVLQAS VSSYHLFRDVAEVTAFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQKWPTLQ DLASASLEEVNQLWAGLGYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVA RVLCRVRAIGADPSSTLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLAS GSLSGSPDVEECAPNTGQCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAG LWEFPSVTWEPSEQLQRKALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEE FHTAAVSTAMKKVFRVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ*

Gene Symbol:	MUTYH
Accession:	XM_017001332
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	51

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDACAGMIAECPGASAGLARQPEEVVLQASVSSYHLFRDVAEVT AFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQKWPTLQDLASASLEEVNQLW AGLGYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVLCRVRAIGADPS STLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSLSGSPDVEECAP NTGQCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQ LQRKALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHTAAVSTAMKKVF RVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ*

Gene Symbol:	MUTYH
Accession:	NM_012222
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	62

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTPLVSRLSRLWAIMRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDGMIAECPGASAGLARQPEEVVLQASVSS YHLFRDVAEVTAFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQKWPTLQDLA SASLEEVNQLWAGLGYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVL CRVRAIGADPSSTLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSL SGSPDVEECAPNTGQCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWE FPSVTWEPSEQLQRKALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHT AAVSTAMKKVFRVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ*

Gene Symbol:	MUTYH
Accession:	NM_001293191
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	48

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDGMIAECPGASAGLARQPEEVVLQASVSSYHLFRDVAEVTAFR GSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQKWPTLQDLASASLEEVNQLWAGL GYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVLCRVRAIGADPSSTL VSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSLSGSPDVEECAPNTG QCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQLQR KALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHTAAVSTAMKKVFRVY QGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	51

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDACAGMIAECPGASAGLARQPEEVVLQASVSSYHLFRDVAEVT AFRGSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQKWPTLQDLASASLEEVNQLW AGLGYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVLCRVRAIGADPS STLVSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSLSGSPDVEECAP NTGQCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQ LQRKALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHTAAVSTAMKKVF RVYQGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ*

Gene Symbol:	MUTYH
Accession:	NM_001407077
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	48

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRKPRAAVGSGHRKQAASQEGRQKHAKNNSQAKPSACDGMIAECPGASAGLARQPEEVVLQASVSSYHLFRDVAEVTAFR GSLLSWYDQEKRDLPWRRRAEDEMDLDRRAYAVWVSEVMLQQTQVATVINYYTGWMQKWPTLQDLASASLEEVNQLWAGL GYYSRGRRLQEGARKVVEELGGHMPRTAETLQQLLPGVGRYTAGAIASIAFGQATGVVDGNVARVLCRVRAIGADPSSTL VSQQLWGLAQQLVDPARPGDFNQAAMELGATVCTPQRPLCSQCPVESLCRARQRVEQEQLLASGSLSGSPDVEECAPNTG QCHLCLPPSEPWDQTLGVVNFPRKASRKPPREESSATCVLEQPGALGAQILLVQRPNSGLLAGLWEFPSVTWEPSEQLQR KALLQELQRWAGPLPATHLRHLGEVVHTFSHIKLTYQVYGLALEGQTPVTTVPPGARWLTQEEFHTAAVSTAMKKVFRVY QGQQPGTCMGSKRSQVSSPCSRKKPRMGQQVLDNFFRSHISTDAHSLNSAAQ*

Gene Symbol:
Accession:
Location:	INTRON

Gene Symbol:	MUTYH
Accession:	NM_001407078
Location:	INTRON

Gene Symbol:	MUTYH
Accession:	NM_001407071
Location:	INTRON

Gene Symbol:	MUTYH
Accession:	NM_001407081
Location:	INTRON

Gene Symbol:	MUTYH
Accession:	XM_047421201
Location:	INTRON

Gene Symbol:	MUTYH
Accession:	NM_001407086
Location:	INTRON

Gene Symbol:	MUTYH
Accession:	NM_001293195
Location:	INTRON

Gene Symbol:
Accession:
Location:	INTRON

Gene Symbol:	MUTYH
Accession:	XM_047421203
Location:	INTRON

Gene Symbol:	MUTYH
Accession:	XM_047421198
Location:	INTRON

Gene Symbol:	MUTYH
Accession:	NM_001407070
Location:	INTRON

Gene Symbol:	MUTYH
Accession:	NM_001407073
Location:	INTRON

Gene Symbol:	MUTYH
Accession:	NM_001407072
Location:	INTRON

Gene Symbol:	MUTYH
Accession:	NM_001407080
Location:	INTRON

Gene Symbol:	MUTYH
Accession:	NM_001407089
Location:	INTRON

Gene Symbol:	MUTYH
Accession:	XM_047421197
Location:	INTRON

Gene Symbol:	MUTYH
Accession:	NM_001407079
Location:	INTRON

Gene Symbol:	MUTYH
Accession:	NM_001048174
Location:	INTRON

Gene Symbol:	MUTYH
Accession:	NM_001407088
Location:	INTRON

Gene Symbol:	MUTYH
Accession:	NM_001048171
Location:	INTRON

Gene Symbol:	MUTYH
Accession:	NM_001048173
Location:	INTRON

Gene Symbol:	MUTYH
Accession:	NM_001048172
Location:	INTRON

Gene Symbol:	MUTYH
Accession:	NM_001293190
Location:	INTRON

Gene Symbol:
Accession:
Location:	INTRON

Gene Symbol:	MUTYH
Accession:	NM_001407087
Location:	INTRON

Gene Symbol:	MUTYH
Accession:	NR_176269
Location:	INTRON;NON-CODING

Gene Symbol:	MUTYH
Accession:	NR_176274
Location:	INTRON;NON-CODING

Gene Symbol:	MUTYH
Accession:	NR_176273
Location:	INTRON;NON-CODING

Gene Symbol:	MUTYH
Accession:	NR_176272
Location:	INTRON;NON-CODING

Gene Symbol:	MUTYH
Accession:	NR_146882
Location:	INTRON;NON-CODING

Gene Symbol:	MUTYH
Accession:	NR_146883
Location:	INTRON;NON-CODING

Gene Symbol:	MUTYH
Accession:	NR_176271
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000537116	CLINVAR
dbSNP (RS)	rs1553130504	CLINVAR
MedGen	C3272841	CLINVAR
NCBI Gene	MUTYH	CLINVAR
OMIM	604933	CLINVAR
	608456	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)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
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)

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

Create Name:

Description:

Send us a Message

Variant: RGD:13495407 - Homo sapiens

Imported Disease Annotations - ClinVar