RGD:155743116 Rat Genome Database

RGD:155743116 Rat Genome Database

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Variant: RGD:155743116 - Homo sapiens

RGD ID:

155743116

ClinVar ID:

CV1777471

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	12	58,021,468
GRCh38	12	57,627,685

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001276468.2:c.1152C>A NM_001478.5:c.1317C>A NG_033849.2:g.10516C>A NC_000012.12:g.57627685G>T More...	07/23/2022	missense variant	uncertain significance

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1777471	Human	paraplegia		IAGP		8554872	ClinVar Annotator: match by term: Spastic paraplegia	ClinVar	PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1777471	Human	Spastic paraplegia		IAGP		8554872	ClinVar Annotator: match by term: Spastic paraplegia	ClinVar	PMID:28492532

Gene Symbol:	B4GALNT1
Accession:	XM_005268773
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	527

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQERARRKEAGRPWGLGSEGRGTGKTAAGSANPSAMCGVESALGSRQEPLRTRGPRAPSLALPSSLPFSLPTLPPPRMWL GRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRYAHIPVRIKEQVVGLLAWNNCSCE SSGGGLPLPFQKQVRAIDLTKAFDPAELRAASATREQEFQAFLSRSQSPADQLLIAPANSPLQYPLQGVEVQPLRSILVP GLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNRQLQLVTYSSRSYQTNTADTVRFSTE GHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNISALVTIATKTFLRYDRLRALITSIRRFYPTVTVVIADDSDKPERVSGP YVEHYLMPFGKGWFAGRNLAVSQVTTKYVLWVDDDFVFTARTRLERLVDVLERTPLDLARLEATSLSLQVGGAVREISGF ATTYRQLLSVEPGAPGLGNCLRQRRGFHHELVGFPGCVVTDGVVNFLLARTDKVREVGFDPRLSRVAHLEFFLDGLGSLR VGSCSDVVVDHASKLKLPWTSRDAGAETYARYRYPGSLDESQMAKHRLLFFKHRLQCMTSQ*

Gene Symbol:	B4GALNT1
Accession:	NM_001413968
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	484

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWLGRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRYAHIPVRIKEQVVGLLAWNNC SCESSGGGLPLPFQKQVRAIDLTKAFDPAELRAASATREQEFQAFLSRSQSPADQLLIAPANSPLQYPLQGVEVQPLRSI LVPGLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNRQLQLVTYSSRSYQTNTADTVRF STEGHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNISALVTIATKTFLRYDRLRALITSIRRFYPTVTVVIADDSDKPERV SGPYVEHYLMPFGKLLAFRKHSKVWRRIQAEKGRGRERKVAEGHVLFLQPPQPHTPFCQGWFAGRNLAVSQVTTKYVLWV DDDFVFTARTRLERLVDVLERTPLDLVGGAVREISGFATTYRQLLSVEPGAPGLGNCLRQRRGFHHELVGFPGCVVTDGV VNFLLARTDKVREVGFDPRLSRVAHLEFFLDGLGSLRVGSCSDVVVDHASKLKLPWTSRDAGAETYARYRYPGSLDESQM AKHRLLFFKHRLQCMTSQ*

Gene Symbol:	B4GALNT1
Accession:	NM_001413983
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	110

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPFGKGWFAGRNLAVSQVTTKYVLWVDDDFVFTARTRLERLVDVLERTPLDLVGGAVREISGFATTYRQLLSVEPGAPGL GNCLRQRRGFHHELVGFPGCVVTDGVVNFLLARTDKVREVGFDPRLSRVAHLEFFLDGLGSLRVGSCSDVVVDHASKLKL PWTSRDAGAETYARYRYPGSLDESQMAKHRLLFFKHRLQCMTSQ*

Gene Symbol:	B4GALNT1
Accession:	NM_001276468
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	384

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWLGRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRYAHIPVRIKEQVVGSQSPADQ LLIAPANSPLQYPLQGVEVQPLRSILVPGLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQ LNRQLQLVTYSSRSYQTNTADTVRFSTEGHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNISALVTIATKTFLRYDRLRAL ITSIRRFYPTVTVVIADDSDKPERVSGPYVEHYLMPFGKGWFAGRNLAVSQVTTKYVLWVDDDFVFTARTRLERLVDVLE RTPLDLVGGAVREISGFATTYRQLLSVEPGAPGLGNCLRQRRGFHHELVGFPGCVVTDGVVNFLLARTDKVREVGFDPRL SRVAHLEFFLDGLGSLRVGSCSDVVVDHASKLKLPWTSRDAGAETYARYRYPGSLDESQMAKHRLLFFKHRLQCMTSQ*

Gene Symbol:	B4GALNT1
Accession:	NM_001413984
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	110

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPFGKGWFAGRNLAVSQVTTKYVLWVDDDFVFTARTRLERLVDVLERTPLDLVGGAVREISGFATTYRQLLSVEPGAPGL GNCLRQRRGFHHELVGFPGCVVTDGVVNFLLARTDKVREVGFDPRLSRVAHLEFFLDGLGSLRVGSCSDVVVDHASKLKL PWTSRDAGAETYARYRYPGSLDESQMAKHRLLFFKHRLQCMTSQ*

Gene Symbol:	B4GALNT1
Accession:	NM_001413981
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	155

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPFGKLLAFRKHSKVWRRIQAEKGRGRERKVAEGHVLFLQPPQPHTPFCQGWFAGRNLAVSQVTTKYVLWVDDDFVFTAR TRLERLVDVLERTPLDLVGGAVREISGFATTYRQLLSVEPGAPGLGNCLRQRRGFHHELVGFPGCVVTDGVVNFLLARTD KVREVGFDPRLSRVAHLEFFLDGLGSLRVGSCSDVVVDHASKLKLPWTSRDAGAETYARYRYPGSLDESQMAKHRLLFFK HRLQCMTSQ*

Gene Symbol:	B4GALNT1
Accession:	NM_001413982
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	121

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPFGKGWFAGRNLAVSQVTTKYVLWVDDDFVFTARTRLERLVDVLERTPLDLARLEATSLSLQVGGAVREISGFATTYRQ LLSVEPGAPGLGNCLRQRRGFHHELVGFPGCVVTDGVVNFLLARTDKVREVGFDPRLSRVAHLEFFLDGLGSLRVGSCSD VVVDHASKLKLPWTSRDAGAETYARYRYPGSLDESQMAKHRLLFFKHRLQCMTSQ*

Gene Symbol:	B4GALNT1
Accession:	NM_001413977
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	406

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWLGRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRYAHIPVRIKEQVVGLLAWNNC SCESSGGGLPLPFQKQVRAIDLTKAFDPAELRAASATREQEFQAFLSRSQSPADQLLIAPANSPLQYPLQGVEVQPLRSI LVPGLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNRQLQLVTYSSRSYQTNTADTAQY NISALVTIATKTFLRYDRLRALITSIRRFYPTVTVVIADDSDKPERVSGPYVEHYLMPFGKGWFAGRNLAVSQVTTKYVL WVDDDFVFTARTRLERLVDVLERTPLDLVGGAVREISGFATTYRQLLSVEPGAPGLGNCLRQRRGFHHELVGFPGCVVTD GVVNFLLARTDKVREVGFDPRLSRVAHLEFFLDGLGSLRVGSCSDVVVDHASKLKLPWTSRDAGAETYARYRYPGSLDES QMAKHRLLFFKHRLQCMTSQ*

Gene Symbol:	B4GALNT1
Accession:	NM_001413967
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	495

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWLGRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRYAHIPVRIKEQVVGLLAWNNC SCESSGGGLPLPFQKQVRAIDLTKAFDPAELRAASATREQEFQAFLSRSQSPADQLLIAPANSPLQYPLQGVEVQPLRSI LVPGLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNRQLQLVTYSSRSYQTNTADTVRF STEGHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNISALVTIATKTFLRYDRLRALITSIRRFYPTVTVVIADDSDKPERV SGPYVEHYLMPFGKLLAFRKHSKVWRRIQAEKGRGRERKVAEGHVLFLQPPQPHTPFCQGWFAGRNLAVSQVTTKYVLWV DDDFVFTARTRLERLVDVLERTPLDLARLEATSLSLQVGGAVREISGFATTYRQLLSVEPGAPGLGNCLRQRRGFHHELV GFPGCVVTDGVVNFLLARTDKVREVGFDPRLSRVAHLEFFLDGLGSLRVGSCSDVVVDHASKLKLPWTSRDAGAETYARY RYPGSLDESQMAKHRLLFFKHRLQCMTSQ*

Gene Symbol:	B4GALNT1
Accession:	NM_001413974
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	439

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWLGRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRYAHIPVRIKEQVVGLLAWNNC SCESSGGGLPLPFQKQVRAIDLTKAFDPAELRAASATREQEFQAFLSRSQSPADQLLIAPANSPLQYPLQGVEVQPLRSI LVPGLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNRQLQLVTYSSRSYQTNTADTVRF STEGHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNISALVTIATKTFLRYDRLRALITSIRRFYPTVTVVIADDSDKPERV SGPYVEHYLMPFGKGWFAGRNLAVSQVTTKYVLWVDDDFVFTARTRLERLVDVLERTPLDLVGGAVREISGFATTYRQLL SVEPGAPGLGNCLRQRRGFHHELVGFPGCVVTDGVVNFLLARTDKVREVGFDPRLSRVAHLEFFLDGLGSLRVGSCSDVV VDHASKLKLPWTSRDAGAETYARYRYPGSLDESQMAKHRLLFFKHRLQCMTSQ*

Gene Symbol:	B4GALNT1
Accession:	NM_001478
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	439

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWLGRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRYAHIPVRIKEQVVGLLAWNNC SCESSGGGLPLPFQKQVRAIDLTKAFDPAELRAASATREQEFQAFLSRSQSPADQLLIAPANSPLQYPLQGVEVQPLRSI LVPGLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNRQLQLVTYSSRSYQTNTADTVRF STEGHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNISALVTIATKTFLRYDRLRALITSIRRFYPTVTVVIADDSDKPERV SGPYVEHYLMPFGKGWFAGRNLAVSQVTTKYVLWVDDDFVFTARTRLERLVDVLERTPLDLVGGAVREISGFATTYRQLL SVEPGAPGLGNCLRQRRGFHHELVGFPGCVVTDGVVNFLLARTDKVREVGFDPRLSRVAHLEFFLDGLGSLRVGSCSDVV VDHASKLKLPWTSRDAGAETYARYRYPGSLDESQMAKHRLLFFKHRLQCMTSQ*

Gene Symbol:	B4GALNT1
Accession:	NM_001413970
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	450

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWLGRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRYAHIPVRIKEQVVGLLAWNNC SCESSGGGLPLPFQKQVRAIDLTKAFDPAELRAASATREQEFQAFLSRSQSPADQLLIAPANSPLQYPLQGVEVQPLRSI LVPGLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNRQLQLVTYSSRSYQTNTADTVRF STEGHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNISALVTIATKTFLRYDRLRALITSIRRFYPTVTVVIADDSDKPERV SGPYVEHYLMPFGKGWFAGRNLAVSQVTTKYVLWVDDDFVFTARTRLERLVDVLERTPLDLARLEATSLSLQVGGAVREI SGFATTYRQLLSVEPGAPGLGNCLRQRRGFHHELVGFPGCVVTDGVVNFLLARTDKVREVGFDPRLSRVAHLEFFLDGLG SLRVGSCSDVVVDHASKLKLPWTSRDAGAETYARYRYPGSLDESQMAKHRLLFFKHRLQCMTSQ*

Gene Symbol:	B4GALNT1
Accession:	NM_001413973
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	439

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWLGRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRYAHIPVRIKEQVVGLLAWNNC SCESSGGGLPLPFQKQVRAIDLTKAFDPAELRAASATREQEFQAFLSRSQSPADQLLIAPANSPLQYPLQGVEVQPLRSI LVPGLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNRQLQLVTYSSRSYQTNTADTVRF STEGHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNISALVTIATKTFLRYDRLRALITSIRRFYPTVTVVIADDSDKPERV SGPYVEHYLMPFGKGWFAGRNLAVSQVTTKYVLWVDDDFVFTARTRLERLVDVLERTPLDLVGGAVREISGFATTYRQLL SVEPGAPGLGNCLRQRRGFHHELVGFPGCVVTDGVVNFLLARTDKVREVGFDPRLSRVAHLEFFLDGLGSLRVGSCSDVV VDHASKLKLPWTSRDAGAETYARYRYPGSLDESQMAKHRLLFFKHRLQCMTSQ*

Gene Symbol:	B4GALNT1
Accession:	XM_024448928
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	522

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQERARRKEAGRPWGLGSEGRGTGKTAAGSANPSAMCGVESALGSRQEPLRTRGPRAPSLALPSSLPFSLPTLPPPRMWL GRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRYAHIPVRIKEQVVGLLAWNNCSCE SSGGGLPLPFQKQVRAIDLTKAFDPAELRAASATREQEFQAFLSRSQSPADQLLIAPANSPLQYPLQGVEVQPLRSILVP GLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNRQLQLVTYSSRSYQTNTADTECKFHK VRFSTEGHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNISALVTIATKTFLRYDRLRALITSIRRFYPTVTVVIADDSDKP ERVSGPYVEHYLMPFGKGWFAGRNLAVSQVTTKYVLWVDDDFVFTARTRLERLVDVLERTPLDLVGGAVREISGFATTYR QLLSVEPGAPGLGNCLRQRRGFHHELVGFPGCVVTDGVVNFLLARTDKVREVGFDPRLSRVAHLEFFLDGLGSLRVGSCS DVVVDHASKLKLPWTSRDAGAETYARYRYPGSLDESQMAKHRLLFFKHRLQCMTSQ*

Gene Symbol:	B4GALNT1
Accession:	NM_001413978
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	384

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWLGRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRYAHIPVRIKEQVVGSQSPADQ LLIAPANSPLQYPLQGVEVQPLRSILVPGLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQ LNRQLQLVTYSSRSYQTNTADTVRFSTEGHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNISALVTIATKTFLRYDRLRAL ITSIRRFYPTVTVVIADDSDKPERVSGPYVEHYLMPFGKGWFAGRNLAVSQVTTKYVLWVDDDFVFTARTRLERLVDVLE RTPLDLVGGAVREISGFATTYRQLLSVEPGAPGLGNCLRQRRGFHHELVGFPGCVVTDGVVNFLLARTDKVREVGFDPRL SRVAHLEFFLDGLGSLRVGSCSDVVVDHASKLKLPWTSRDAGAETYARYRYPGSLDESQMAKHRLLFFKHRLQCMTSQ*

Gene Symbol:	B4GALNT1
Accession:	XM_047428681
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	516

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQERARRKEAGRPWGLGSEGRGTGKTAAGSANPSAMCGVESALGSRQEPLRTRGPRAPSLALPSSLPFSLPTLPPPRMWL GRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRYAHIPVRIKEQVVGLLAWNNCSCE SSGGGLPLPFQKQVRAIDLTKAFDPAELRAASATREQEFQAFLSRSQSPADQLLIAPANSPLQYPLQGVEVQPLRSILVP GLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNRQLQLVTYSSRSYQTNTADTVRFSTE GHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNISALVTIATKTFLRYDRLRALITSIRRFYPTVTVVIADDSDKPERVSGP YVEHYLMPFGKGWFAGRNLAVSQVTTKYVLWVDDDFVFTARTRLERLVDVLERTPLDLVGGAVREISGFATTYRQLLSVE PGAPGLGNCLRQRRGFHHELVGFPGCVVTDGVVNFLLARTDKVREVGFDPRLSRVAHLEFFLDGLGSLRVGSCSDVVVDH ASKLKLPWTSRDAGAETYARYRYPGSLDESQMAKHRLLFFKHRLQCMTSQ*

Gene Symbol:	B4GALNT1
Accession:	NM_001413972
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	450

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWLGRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRYAHIPVRIKEQVVGLLAWNNC SCESSGGGLPLPFQKQVRAIDLTKAFDPAELRAASATREQEFQAFLSRSQSPADQLLIAPANSPLQYPLQGVEVQPLRSI LVPGLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNRQLQLVTYSSRSYQTNTADTVRF STEGHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNISALVTIATKTFLRYDRLRALITSIRRFYPTVTVVIADDSDKPERV SGPYVEHYLMPFGKGWFAGRNLAVSQVTTKYVLWVDDDFVFTARTRLERLVDVLERTPLDLARLEATSLSLQVGGAVREI SGFATTYRQLLSVEPGAPGLGNCLRQRRGFHHELVGFPGCVVTDGVVNFLLARTDKVREVGFDPRLSRVAHLEFFLDGLG SLRVGSCSDVVVDHASKLKLPWTSRDAGAETYARYRYPGSLDESQMAKHRLLFFKHRLQCMTSQ*

Gene Symbol:	B4GALNT1
Accession:	XM_011538147
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	533

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQERARRKEAGRPWGLGSEGRGTGKTAAGSANPSAMCGVESALGSRQEPLRTRGPRAPSLALPSSLPFSLPTLPPPRMWL GRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRYAHIPVRIKEQVVGLLAWNNCSCE SSGGGLPLPFQKQVRAIDLTKAFDPAELRAASATREQEFQAFLSRSQSPADQLLIAPANSPLQYPLQGVEVQPLRSILVP GLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNRQLQLVTYSSRSYQTNTADTECKFHK VRFSTEGHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNISALVTIATKTFLRYDRLRALITSIRRFYPTVTVVIADDSDKP ERVSGPYVEHYLMPFGKGWFAGRNLAVSQVTTKYVLWVDDDFVFTARTRLERLVDVLERTPLDLARLEATSLSLQVGGAV REISGFATTYRQLLSVEPGAPGLGNCLRQRRGFHHELVGFPGCVVTDGVVNFLLARTDKVREVGFDPRLSRVAHLEFFLD GLGSLRVGSCSDVVVDHASKLKLPWTSRDAGAETYARYRYPGSLDESQMAKHRLLFFKHRLQCMTSQ*

Gene Symbol:	B4GALNT1
Accession:	NM_001413971
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	450

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWLGRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRYAHIPVRIKEQVVGLLAWNNC SCESSGGGLPLPFQKQVRAIDLTKAFDPAELRAASATREQEFQAFLSRSQSPADQLLIAPANSPLQYPLQGVEVQPLRSI LVPGLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNRQLQLVTYSSRSYQTNTADTVRF STEGHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNISALVTIATKTFLRYDRLRALITSIRRFYPTVTVVIADDSDKPERV SGPYVEHYLMPFGKGWFAGRNLAVSQVTTKYVLWVDDDFVFTARTRLERLVDVLERTPLDLARLEATSLSLQVGGAVREI SGFATTYRQLLSVEPGAPGLGNCLRQRRGFHHELVGFPGCVVTDGVVNFLLARTDKVREVGFDPRLSRVAHLEFFLDGLG SLRVGSCSDVVVDHASKLKLPWTSRDAGAETYARYRYPGSLDESQMAKHRLLFFKHRLQCMTSQ*

Gene Symbol:	B4GALNT1
Accession:	NM_001413969
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	484

Amino Acid Sequence (Calculated using NCBI transcript definition)
MWLGRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRYAHIPVRIKEQVVGLLAWNNC SCESSGGGLPLPFQKQVRAIDLTKAFDPAELRAASATREQEFQAFLSRSQSPADQLLIAPANSPLQYPLQGVEVQPLRSI LVPGLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNRQLQLVTYSSRSYQTNTADTVRF STEGHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNISALVTIATKTFLRYDRLRALITSIRRFYPTVTVVIADDSDKPERV SGPYVEHYLMPFGKLLAFRKHSKVWRRIQAEKGRGRERKVAEGHVLFLQPPQPHTPFCQGWFAGRNLAVSQVTTKYVLWV DDDFVFTARTRLERLVDVLERTPLDLVGGAVREISGFATTYRQLLSVEPGAPGLGNCLRQRRGFHHELVGFPGCVVTDGV VNFLLARTDKVREVGFDPRLSRVAHLEFFLDGLGSLRVGSCSDVVVDHASKLKLPWTSRDAGAETYARYRYPGSLDESQM AKHRLLFFKHRLQCMTSQ*

Gene Symbol:	B4GALNT1
Accession:	XM_047428680
Location:	EXON
Amino Acid Prediction:	F to L (nonsynonymous)
Amino Acid Position:	561

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQERARRKEAGRPWGLGSEGRGTGKTAAGSANPSAMCGVESALGSRQEPLRTRGPRAPSLALPSSLPFSLPTLPPPRMWL GRRALCALVLLLACASLGLLYASTRDAPGLRLPLAPWAPPQSPRRPELPDLAPEPRYAHIPVRIKEQVVGLLAWNNCSCE SSGGGLPLPFQKQVRAIDLTKAFDPAELRAASATREQEFQAFLSRSQSPADQLLIAPANSPLQYPLQGVEVQPLRSILVP GLSLQAASGQEVYQVNLTASLGTWDVAGEVTGVTLTGEGQADLTLVSPGLDQLNRQLQLVTYSSRSYQTNTADTVRFSTE GHEAAFTIRIRHPPNPRLYPPGSLPQGAQYNISALVTIATKTFLRYDRLRALITSIRRFYPTVTVVIADDSDKPERVSGP YVEHYLMPFGKLLAFRKHSKVWRRIQAEKGRGRERKVAEGHVLFLQPPQPHTPFCQGWFAGRNLAVSQVTTKYVLWVDDD FVFTARTRLERLVDVLERTPLDLVGGAVREISGFATTYRQLLSVEPGAPGLGNCLRQRRGFHHELVGFPGCVVTDGVVNF LLARTDKVREVGFDPRLSRVAHLEFFLDGLGSLRVGSCSDVVVDHASKLKLPWTSRDAGAETYARYRYPGSLDESQMAKH RLLFFKHRLQCMTSQ*

Gene Symbol:	B4GALNT1
Accession:	NM_001413980
Location:	INTRON

Gene Symbol:	B4GALNT1
Accession:	NM_001276469
Location:	INTRON

Gene Symbol:	B4GALNT1
Accession:	NM_001413979
Location:	INTRON

Gene Symbol:	B4GALNT1
Accession:	XM_047428682
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002302971	CLINVAR
MedGen	C0037772	CLINVAR
NCBI Gene	B4GALNT1	CLINVAR
OMIM	601873	CLINVAR