RGD:401739762 Rat Genome Database

Variant: RGD:401739762 - Homo sapiens

RGD ID:

401739762

ClinVar ID:

CV2704706

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ZBBX

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	3	167,045,751
GRCh38	3	167,327,963

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_001199202.2:c.754A>G NM_001199201.2:c.841A>G NM_001377489.1:c.841A>G NM_024687.4:c.841A>G More...	04/20/2023	missense variant	uncertain significance

Disease Annotations Click to see Annotation Detail View

genetic disease (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	ZBBX
Accession:	NM_024687
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	281

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRKDFVVLPWGKPGNSVKLKYRNAQELRMEKVQLEFENQEMEKKLQEFRSTRNKEKEDRESSEYYWKSGKVGKLVNQSY MMSQNKGNVVKFSAGKVKLKLLKEQIQEPVKPTVNYKMANSSECEKPKINGKVCGQCENKAALLVCLECGEDYCSGCFAK VHQKGALKLHRTTLLQAKSQILFNVLDVAHQFIKDVNPDEPKEENNSTKETSKIQHKPKSVLLQRSSSEVEITTMKRAQR TKPRKSLLCEGSFDEEASAQSFQEVLSQWRTGNHDDNKKQDLHAAVKDSLEECEVQTNLKIWREPLNIELKEDILSYMEK LWLKKHRRTPQEQLFKMLPDTFPHPHETTGDAQCSQNENDEDSDGEETKVQHTALLLPVETLNIERPEPSLKIVELDDTY EEEFEEAENIVPYKVKLADADSQRSCAFHDCQKNSFPYENGIHQHHVFDKGKRDFLNLCLRNSSTYYKDNSKAETSNTDF DNIVDPDVYSSDIEKIEESTSFERNLKEKNIGLESNQKSDDSCVSLESKDTLLGRDLEKAPIEEKLSQDIKESLELSNLY KRPSFEESKTTKSSLLLQEIACRSKPITKQYQGLERFFIFDTNERLNLLPSHRLECNNSSTRITLAGQKSQRPSTANFPL SNSVKESSSCLSSSHPRSRSAAAQSSSRAASEISEIEYIDITDQNELSLDDTTDQHTLDNLEKELQVLRSLADTSEKLYS LTSEEFPDFSSQSLNISQISTDFLKTSHVRGPCGVEELSCSGRDTKIQSLLSLSESSTDEEEEDFLNKQHVITLPWSKST *

Gene Symbol:	ZBBX
Accession:	NM_001199201
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	281

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRKDFVVLPWGKPGNSVKLKYRNAQELRMEKVQLEFENQEMEKKLQEFRSTRNKEKEDRESSEYYWKSGKVGKLVNQSY MMSQNKGNVVKFSAGKVKLKLLKEQIQEPVKPTVNYKMANSSECEKPKINGKVCGQCENKAALLVCLECGEDYCSGCFAK VHQKGALKLHRTTLLQAKSQILFNVLDVAHQFIKDVNPDEPKEENNSTKETSKIQHKPKSVLLQRSSSEVEITTMKRAQR TKPRKSLLCEGSFDEEASAQSFQEVLSQWRTGNHDDNKKQDLHAAVKDSLEECEVQTNLKIWREPLNIELKEDILSYMEK LWLKKHRRTPQEQLFKMLPDTFPHPHETTGDAQCSQNENDEDSDGEETKVQHTALLLPVETLNIERPEPSLKIVELDDTY EEEFEEAENIVPYKVKLADADSQRSCAFHDCQKNSFPYENGIHQHHVFDKGKRDFLNLCLRNSSTYYKDNSKAETSNTDF DNIVDPDVYSSDIEKIEESTSFERNLKEKNIGLESNQKSDDSCVSLESKDTLLGRDLEKAPIEEKLSQDIKESLELSNLY KRPSFEESKTTKSSLLLQEIACRSKPITKQYQGLERFFIFDTNERLNLLPSHRLECNNSSTRITLAEDREWIPDHSLSEY ADNAIVLGVLQGAQSPSSSRKQQKMGQKSQRPSTANFPLSNSVKESSSCLSSSHPRSRSAAAQSSSRAASEISEIEYIDI TDQNELSLDDTTDQHTLDNLEKELQVLRSLADTSEKLYSLTSEEFPDFSSQSLNISQISTDFLKTSHVRGPCGVEELSCS GRDTKIQSLLSLSESSTDEEEEDFLNKQHVITLPWSKST*

Gene Symbol:	ZBBX
Accession:	NM_001199202
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	252

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEKVQLEFENQEMEKKLQEFRSTRNKEKEDRESSEYYWKSGKVGKLVNQSYMMSQNKGNVVKFSAGKVKLKLLKEQIQEP VKPTVNYKMANSSECEKPKINGKVCGQCENKAALLVCLECGEDYCSGCFAKVHQKGALKLHRTTLLQAKSQILFNVLDVA HQFIKDVNPDEPKEENNSTKETSKIQHKPKSVLLQRSSSEVEITTMKRAQRTKPRKSLLCEGSFDEEASAQSFQEVLSQW RTGNHDDNKKQDLHAAVKDSLEECEVQTNLKIWREPLNIELKEDILSYMEKLWLKKHRRTPQEQLFKMLPDTFPHPHETT GDAQCSQNENDEDSDGEETKVQHTALLLPVETLNIERPEPSLKIVELDDTYEEEFEEAENIVPYKVKLADADSQRSCAFH DCQKNSFPYENGIHQHHVFDKGKRDFLNLCLRNSSTYYKDNSKAETSNTDFDNIVDPDVYSSDIEKIEESTSFERNLKEK NIGLESNQKSDDSCVSLESKDTLLGRDLEKAPIEEKLSQDIKESLELSNLYKRPSFEESKTTKSSLLLQEIACRSKPITK QYQGLERFFIFDTNERLNLLPSHRLECNNSSTRITLAGQKSQRPSTANFPLSNSVKESSSCLSSSHPRSRSAAAQSSSRA ASEISEIEYIDITDQNELSLDDTTDQHTLDNLEKELQVLRSLADTSEKLYSLTSEEFPDFSSQSLNISQISTDFLKTSHV RGPCGVEELSCSGRDTKIQSLLSLSESSTDEEEEDFLNKQHVITLPWSKST*

Gene Symbol:	ZBBX
Accession:	XM_011513145
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	281

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRKDFVVLPWGKPGNSVKLKYRNAQELRMEKVQLEFENQEMEKKLQEFRSTRNKEKEDRESSEYYWKSGKVGKLVNQSY MMSQNKGNVVKFSAGKVKLKLLKEQIQEPVKPTVNYKMANSSECEKPKINGKVCGQCENKAALLVCLECGEDYCSGCFAK VHQKGALKLHRTTLLQAKSQILFNVLDVAHQFIKDVNPDEPKEENNSTKETSKIQHKPKSVLLQRSSSEVEITTMKRAQR TKPRKSLLCEGSFDEEASAQSFQEVLSQWRTGNHDDNKKQDLHAAVKDSLEECEVQTNLKIWREPLNIELKEDILSYMEK LWLKKHRRTPQEQLFKMLPDTFPHPHETTGDAQCSQNENDEDSDGEETKVQHTALLLPVETLNIERPEPSLKIVELDDTY EEEFEEAENIVPYKVKLADADSQRSCAFHDCQKNSFPYENGIHQHHVFDKGKRDFLNLCLRNSSTYYKDNSKAETSNTDF DNIVDPDVYSSDIEKIEESTSFERNLKEKNIGLESNQKSDDSCVSLESKDTLLGRDLEKAPIEEKLSQDIKESLELSNLY KRPSFEESKTTKSSLLLQEIACRSKPITKQYQGLERFFIFDTNERLNLLPSHRLECNNSSTRITLAEDREWIPDHSLSEY ADNAIVLGVLQGAQSPSSSRKQQKMGANMLKKPTKSTFKTGQKSQRPSTANFPLSNSVKESSSCLSSSHPRSRSAAAQSS SRAASEISEIEYIDITDQNELSLDDTTDQHTLDNLEKELQVLRSLADTSEKLYSLTSEEFPDFSSQSLNISQISTDFLKT SHVRGPCGVEELSCSGRDTKIQSLLSLSESSTDEEEEDFLNKQHVITLPWSKRLLFAAPLEEECVCFPFHHDFLRPPPPC *

Gene Symbol:	ZBBX
Accession:	XM_011513148
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	281

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRKDFVVLPWGKPGNSVKLKYRNAQELRMEKVQLEFENQEMEKKLQEFRSTRNKEKEDRESSEYYWKSGKVGKLVNQSY MMSQNKGNVVKFSAGKVKLKLLKEQIQEPVKPTVNYKMANSSECEKPKINGKVCGQCENKAALLVCLECGEDYCSGCFAK VHQKGALKLHRTTLLQAKSQILFNVLDVAHQFIKDVNPDEPKEENNSTKETSKIQHKPKSVLLQRSSSEVEITTMKRAQR TKPRKSLLCEGSFDEEASAQSFQEVLSQWRTGNHDDNKKQDLHAAVKDSLEECEVQTNLKIWREPLNIELKEDILSYMEK LWLKKHRRTPQEQLFKMLPDTFPHPHETTGDAQCSQNENDEDSDGEETKVQHTALLLPVETLNIERPEPSLKIVELDDTY EEEFEEAENIVPYKVKLADADSQRSCAFHDCQKNSFPYENGIHQHHVFDKGKRDFLNLCLRNSSTYYKDNSKETSNTDFD NIVDPDVYSSDIEKIEESTSFERNLKEKNIGLESNQKSDDSCVSLESKDTLLGRDLEKAPIEEKLSQDIKESLELSNLYK RPSFEESKTTKSSLLLQEIACRSKPITKQYQGLERFFIFDTNERLNLLPSHRLECNNSSTRITLAEDREWIPDHSLSEYA DNAIVLGVLQGAQSPSSSRKQQKMGANMLKKPTKSTFKTGQKSQRPSTANFPLSNSVKESSSCLSSSHPRSRSAAAQSSS RAASEISEIEYIDITDQNELSLDDTTDQHTLDNLEKELQVLRSLADTSEKLYSLTSEEFPDFSSQSLNISQISTDFLKTS HVRGPCGVEELSCSGRDTKIQSLLSLSESSTDEEEEDFLNKQHVITLPWSKRLLFAAPLEEECVCFPFHHDFLRPPPPC*

Gene Symbol:	ZBBX
Accession:	XM_011513152
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	164

Amino Acid Sequence (Calculated using NCBI transcript definition)
MANSSECEKPKINGKVCGQCENKAALLVCLECGEDYCSGCFAKVHQKGALKLHRTTLLQAKSQILFNVLDVAHQFIKDVN PDEPKEENNSTKETSKIQHKPKSVLLQRSSSEVEITTMKRAQRTKPRKSLLCEGSFDEEASAQSFQEVLSQWRTGNHDDN KKQDLHAAVKDSLEECEVQTNLKIWREPLNIELKEDILSYMEKLWLKKHRRTPQEQLFKMLPDTFPHPHETTGDAQCSQN ENDEDSDGEETKVQHTALLLPVETLNIERPEPSLKIVELDDTYEEEFEEAENIVPYKVKLADADSQRSCAFHDCQKNSFP YENGIHQHHVFDKGKRDFLNLCLRNSSTYYKDNSKAETSNTDFDNIVDPDVYSSDIEKIEESTSFERNLKEKNIGLESNQ KSDDSCVSLESKDTLLGRDLEKAPIEEKLSQDIKESLELSNLYKRPSFEESKTTKSSLLLQEIACRSKPITKQYQGLERF FIFDTNERLNLLPSHRLECNNSSTRITLAEDREWIPDHSLSEYADNAIVLGVLQGAQSPSSSRKQQKMGANMLKKPTKST FKTGQKSQRPSTANFPLSNSVKESSSCLSSSHPRSRSAAAQSSSRAASEISEIEYIDITDQNELSLDDTTDQHTLDNLEK ELQVLRSLADTSEKLYSLTSEEFPDFSSQSLNISQISTDFLKTSHVRGPCGVEELSCSGRDTKIQSLLSLSESSTDEEEE DFLNKQHVITLPWSKRLLFAAPLEEECVCFPFHHDFLRPPPPC*

Gene Symbol:	ZBBX
Accession:	XM_011513153
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	69

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYNPPAFSTLPQLCGSQVEITTMKRAQRTKPRKSLLCEGSFDEEASAQSFQEVLSQWRTGNHDDNKKQDLHAAVKDSLEE CEVQTNLKIWREPLNIELKEDILSYMEKLWLKKHRRTPQEQLFKMLPDTFPHPHETTGDAQCSQNENDEDSDGEETKVQH TALLLPVETLNIERPEPSLKIVELDDTYEEEFEEAENIVPYKVKLADADSQRSCAFHDCQKNSFPYENGIHQHHVFDKGK RDFLNLCLRNSSTYYKDNSKAETSNTDFDNIVDPDVYSSDIEKIEESTSFERNLKEKNIGLESNQKSDDSCVSLESKDTL LGRDLEKAPIEEKLSQDIKESLELSNLYKRPSFEESKTTKSSLLLQEIACRSKPITKQYQGLERFFIFDTNERLNLLPSH RLECNNSSTRITLAEDREWIPDHSLSEYADNAIVLGVLQGAQSPSSSRKQQKMGANMLKKPTKSTFKTGQKSQRPSTANF PLSNSVKESSSCLSSSHPRSRSAAAQSSSRAASEISEIEYIDITDQNELSLDDTTDQHTLDNLEKELQVLRSLADTSEKL YSLTSEEFPDFSSQSLNISQISTDFLKTSHVRGPCGVEELSCSGRDTKIQSLLSLSESSTDEEEEDFLNKQHVITLPWSK RLLFAAPLEEECVCFPFHHDFLRPPPPC*

Gene Symbol:	ZBBX
Accession:	XM_011513156
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	281

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRKDFVVLPWGKPGNSVKLKYRNAQELRMEKVQLEFENQEMEKKLQEFRSTRNKEKEDRESSEYYWKSGKVGKLVNQSY MMSQNKGNVVKFSAGKVKLKLLKEQIQEPVKPTVNYKMANSSECEKPKINGKVCGQCENKAALLVCLECGEDYCSGCFAK VHQKGALKLHRTTLLQAKSQILFNVLDVAHQFIKDVNPDEPKEENNSTKETSKIQHKPKSVLLQRSSSEVEITTMKRAQR TKPRKSLLCEGSFDEEASAQSFQEVLSQWRTGNHDDNKKQDLHAAVKDSLEECEVQTNLKIWREPLNIELKEDILSYMEK LWLKKHRRTPQEQLFKMLPDTFPHPHETTGDAQCSQNENDEDSDGEETKVQHTALLLPVETLNIERPEPSLKIVELDDVE SFCYFCYLCFLANNIFISPLDKFERLDKNTHTTYMWACHSLHC*

Gene Symbol:	ZBBX
Accession:	XM_011513155
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	281

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRKDFVVLPWGKPGNSVKLKYRNAQELRMEKVQLEFENQEMEKKLQEFRSTRNKEKEDRESSEYYWKSGKVGKLVNQSY MMSQNKGNVVKFSAGKVKLKLLKEQIQEPVKPTVNYKMANSSECEKPKINGKVCGQCENKAALLVCLECGEDYCSGCFAK VHQKGALKLHRTTLLQAKSQILFNVLDVAHQFIKDVNPDEPKEENNSTKETSKIQHKPKSVLLQRSSSEVEITTMKRAQR TKPRKSLLCEGSFDEEASAQSFQEVLSQWRTGNHDDNKKQDLHAAVKDSLEECEVQTNLKIWREPLNIELKEDILSYMEK LWLKKHRRTPQEQLFKMLPDTFPHPHETTGDAQCSQNENDEDSDGEETKVQHTALLLPVETLNIERPEPSLKIVELDDVE SFCYFCYLCFLANNIFISPLDKFERLDKNTHTTYMWACHSLHC*

Gene Symbol:	ZBBX
Accession:	XM_017007188
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	281

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRKDFVVLPWGKPGNSVKLKYRNAQELRMEKVQLEFENQEMEKKLQEFRSTRNKEKEDRESSEYYWKSGKVGKLVNQSY MMSQNKGNVVKFSAGKVKLKLLKEQIQEPVKPTVNYKMANSSECEKPKINGKVCGQCENKAALLVCLECGEDYCSGCFAK VHQKGALKLHRTTLLQAKSQILFNVLDVAHQFIKDVNPDEPKEENNSTKETSKIQHKPKSVLLQRSSSEVEITTMKRAQR TKPRKSLLCEGSFDEEASAQSFQEVLSQWRTGNHDDNKKQDLHAAVKDSLEECEVQTNLKIWREPLNIELKEDILSYMEK LWLKKHRRTPQEQLFKMLPDTFPHPHETTGDAQCSQNENDEDSDGEETKVQHTALLLPVETLNIERPEPSLKIVELDDTY EEEFEEAENIVPYKVKLADADSQRSCAFHDCQKNSFPYENGIHQHHVFDKGKRDFLNLCLRNSSTYYKDNSKAETSNTDF DNIVDPDVYSSDIEKIEESTSFERNLKEKNIGLESNQKSDDSCVSLESKDTLLGRDLEKAPIEEKLSQDIKESLELSNLY KRPSFEESKTTKSSLLLQEIACRSKPITKQYQGLERFFIFDTNERLNLLPSHRLECNNSSTRITLAGQKSQRPSTANFPL SNSVKESSSCLSSSHPRSRSAAAQSSSRAASEISEIEYIDITDQNELSLDDTTDQHTLDNLEKELQVLRSLADTSEKLYS LTSEEFPDFSSQSLNISQISTDFLKTSHVRGPCGVEELSCSGRDTKIQSLLSLSESSTDEEEEDFLNKQHVITLPWSKRL LFAAPLEEECVCFPFHHDFLRPPPPC*

Gene Symbol:	ZBBX
Accession:	XM_017007187
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	281

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRKDFVVLPWGKPGNSVKLKYRNAQELRMEKVQLEFENQEMEKKLQEFRSTRNKEKEDRESSEYYWKSGKVGKLVNQSY MMSQNKGNVVKFSAGKVKLKLLKEQIQEPVKPTVNYKMANSSECEKPKINGKVCGQCENKAALLVCLECGEDYCSGCFAK VHQKGALKLHRTTLLQAKSQILFNVLDVAHQFIKDVNPDEPKEENNSTKETSKIQHKPKSVLLQRSSSEVEITTMKRAQR TKPRKSLLCEGSFDEEASAQSFQEVLSQWRTGNHDDNKKQDLHAAVKDSLEECEVQTNLKIWREPLNIELKEDILSYMEK LWLKKHRRTPQEQLFKMLPDTFPHPHETTGDAQCSQNENDEDSDGEETKVQHTALLLPVETLNIERPEPSLKIVELDDTY EEEFEEAENIVPYKVKLADADSQRSCAFHDCQKNSFPYENGIHQHHVFDKGKRDFLNLCLRNSSTYYKDNSKAETSNTDF DNIVDPDVYSSDIEKIEESTSFERNLKEKNIGLESNQKSDDSCVSLESKDTLLGRDLEKAPIEEKLSQDIKESLELSNLY KRPSFEESKTTKSSLLLQEIACRSKPITKQYQGLERFFIFDTNERLNLLPSHRLECNNSSTRITLAEDREWIPDHSLSEY ADNAIVLGVLQGAQSPSSSRKQQKMGQKSQRPSTANFPLSNSVKESSSCLSSSHPRSRSAAAQSSSRAASEISEIEYIDI TDQNELSLDDTTDQHTLDNLEKELQVLRSLADTSEKLYSLTSEEFPDFSSQSLNISQISTDFLKTSHVRGPCGVEELSCS GRDTKIQSLLSLSESSTDEEEEDFLNKQHVITLPWSKRLLFAAPLEEECVCFPFHHDFLRPPPPC*

Gene Symbol:	ZBBX
Accession:	XM_017007186
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	281

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRKDFVVLPWGKPGNSVKLKYRNAQELRMEKVQLEFENQEMEKKLQEFRSTRNKEKEDRESSEYYWKSGKVGKLVNQSY MMSQNKGNVVKFSAGKVKLKLLKEQIQEPVKPTVNYKMANSSECEKPKINGKVCGQCENKAALLVCLECGEDYCSGCFAK VHQKGALKLHRTTLLQAKSQILFNVLDVAHQFIKDVNPDEPKEENNSTKETSKIQHKPKSVLLQRSSSEVEITTMKRAQR TKPRKSLLCEGSFDEEASAQSFQEVLSQWRTGNHDDNKKQDLHAAVKDSLEECEVQTNLKIWREPLNIELKEDILSYMEK LWLKKHRRTPQEQLFKMLPDTFPHPHETTGDAQCSQNENDEDSDGEETKVQHTALLLPVETLNIERPEPSLKIVELDDTY EEEFEEAENIVPYKVKLADADSQRSCAFHDCQKNSFPYENGIHQHHVFDKGKRDFLNLCLRNSSTYYKDNSKAETSNTDF DNIVDPDVYSSDIEKIEESTSFERNLKEKNIGLESNQKSDDSCVSLESKDTLLGRDLEKAPIEEKLSQDIKESLELSNLY KRPSFEESKTTKSSLLLQEIACRSKPITKQYQGLERFFIFDTNERLNLLPSHRLECNNSSTRITLAEDREWIPDHSLSEY ADNAIVLGVLQGAQSPSSSRKQQKMGANMLKKPTKSTFKTGQKSQRPSTANFPLSNSVKESSSCLSSSHPRSRSAAAQSS SRAASEISEIEYIDITDQNELSLDDTTDQHTLDNLEKELQVLRSLADTSEKLYSLTSEEFPDFSSQSLNISQISTDFLKT SHVRGPCGVEELSCSGRDTKIQSLLSLSESSTDEEEEDFLNKQHVITLPWSKRLLFAAPLEEECVCFPFHHDFLRPPPPC *

Gene Symbol:	ZBBX
Accession:	XM_017007189
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	281

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRKDFVVLPWGKPGNSVKLKYRNAQELRMEKVQLEFENQEMEKKLQEFRSTRNKEKEDRESSEYYWKSGKVGKLVNQSY MMSQNKGNVVKFSAGKVKLKLLKEQIQEPVKPTVNYKMANSSECEKPKINGKVCGQCENKAALLVCLECGEDYCSGCFAK VHQKGALKLHRTTLLQAKSQILFNVLDVAHQFIKDVNPDEPKEENNSTKETSKIQHKPKSVLLQRSSSEVEITTMKRAQR TKPRKSLLCEGSFDEEASAQSFQEVLSQWRTGNHDDNKKQDLHAAVKDSLEECEVQTNLKIWREPLNIELKEDILSYMEK LWLKKHRRTPQEQLFKMLPDTFPHPHETTGDAQCSQNENDEDSDGEETKVQHTALLLPVETLNIERPEPSLKIVELDDTY EEEFEEAENIVPYKVKLADADSQRSCAFHDCQKNSFPYENGIHQHHVFDKGKRDFLNLCLRNSSTYYKDNSKAETSNTDF DNIVDPDVYSSDIEKIEESTSFERNLKEKNIGLESNQKSDDSCVSLESKDTLLGRDLEKAPIEEKLSQDIKESLELSNLY KRPSFEESKTTKSSLLLQEIACRSKPITKQYQGLERFFIFDTNERLNLLPSHRLECNNSSTRITLAGQKSQRPSTANFPL SNSVKESSSCLSSSHPRSRSAAAQSSSRAASEISEIEYIDITDQNELSLDDTTDQHTLDNLEKELQVLRSLADTSEKLYS LTSEEFPDFSSQSLNISQISTDFLKTSHVRGPCGVEELSCSGRDTKIQSLLSLSESSTDEEEEDFLNKQHVITLPWSKST *

Gene Symbol:	ZBBX
Accession:	XM_024453753
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	281

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRKDFVVLPWGKPGNSVKLKYRNAQELRMEKVQLEFENQEMEKKLQEFRSTRNKEKEDRESSEYYWKSGKVGKLVNQSY MMSQNKGNVVKFSAGKVKLKLLKEQIQEPVKPTVNYKMANSSECEKPKINGKVCGQCENKAALLVCLECGEDYCSGCFAK VHQKGALKLHRTTLLQAKSQILFNVLDVAHQFIKDVNPDEPKEENNSTKETSKIQHKPKSVLLQRSSSEVEITTMKRAQR TKPRKSLLCEGSFDEEASAQSFQEVLSQWRTGNHDDNKKQDLHAAVKDSLEECEVQTNLKIWREPLNIELKEDILSYMEK LWLKKHRRTPQEQLFKMLPDTFPHPHETTGDAQCSQNENDEDSDGEETKVQHTALLLPVETLNIERPEPSLKIVELDDTY EEEFEEAENIVPYKVKLADADSQRSCAFHDCQKNSFPYENGIHQHHVFDKGKRDFLNLCLRNSSTYYKDNSKAETSNTDF DNIVDPDVYSSDIEKIEESTSFERNLKEKNIGLESNQKSDDSCVSLESKDTLLGRDLEKAPIEEKLSQDIKESLELSNLY KRPSFEESKTTKSSLLLQEIACRSKPITKQYQGLERFFIFDTNERLNLLPSHRLECNNSSTRITLAEDREWIPDHSLSEY ADNAIVLGVLQGAQSPSSSRKQQKMGANMLKKPTKSTFKTGQKSQRPSTANFPLSNSVKESSSCLSSSHPRSRSAAAQSS SRAASEISEIEYIDITDQNELSLDDTTDQHTLDNLEKELQVLRSLAAVTMSSRHQEGRSGKSKMDVS*

Gene Symbol:	ZBBX
Accession:	NM_001377489
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	281

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRKDFVVLPWGKPGNSVKLKYRNAQELRMEKVQLEFENQEMEKKLQEFRSTRNKEKEDRESSEYYWKSGKVGKLVNQSY MMSQNKGNVVKFSAGKVKLKLLKEQIQEPVKPTVNYKMANSSECEKPKINGKVCGQCENKAALLVCLECGEDYCSGCFAK VHQKGALKLHRTTLLQAKSQILFNVLDVAHQFIKDVNPDEPKEENNSTKETSKIQHKPKSVLLQRSSSEVEITTMKRAQR TKPRKSLLCEGSFDEEASAQSFQEVLSQWRTGNHDDNKKQDLHAAVKDSLEECEVQTNLKIWREPLNIELKEDILSYMEK LWLKKHRRTPQEQLFKMLPDTFPHPHETTGDAQCSQNENDEDSDGEETKVQHTALLLPVETLNIERPEPSLKIVELDDTY EEEFEEAENIVPYKVKLADADSQRSCAFHDCQKNSFPYENGIHQHHVFDKGKRDFLNLCLRNSSTYYKDNSKAETSNTDF DNIVDPDVYSSDIEKIEESTSFERNLKEKNIGLESNQKSDDSCVSLESKDTLLGRDLEKAPIEEKLSQDIKESLELSNLY KRPSFEESKTTKSSLLLQEIACRSKPITKQYQGLERFFIFDTNERLNLLPSHRLECNNSSTRITLAGQKSQRPSTANFPL SNSVKESSSCLSSSHPRSRSAAAQSSSRAASEISEIEYIDITDQNELSLDDTTDQHTLDNLEKELQVLRSLADTSEKLYS LTSEEFPDFSSQSLNISQISTDFLKTSHVRGPCGVEELSCSGRDTKIQSLLSLSESSTDEEEEDFLNKQHVITLPWSKST *

Gene Symbol:	ZBBX
Accession:	XM_047448953
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	281

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRKDFVVLPWGKPGNSVKLKYRNAQELRMEKVQLEFENQEMEKKLQEFRSTRNKEKEDRESSEYYWKSGKVGKLVNQSY MMSQNKGNVVKFSAGKVKLKLLKEQIQEPVKPTVNYKMANSSECEKPKINGKVCGQCENKAALLVCLECGEDYCSGCFAK VHQKGALKLHRTTLLQAKSQILFNVLDVAHQFIKDVNPDEPKEENNSTKETSKIQHKPKSVLLQRSSSEVEITTMKRAQR TKPRKSLLCEGSFDEEASAQSFQEVLSQWRTGNHDDNKKQDLHAAVKDSLEECEVQTNLKIWREPLNIELKEDILSYMEK LWLKKHRRTPQEQLFKMLPDTFPHPHETTGDAQCSQNENDEDSDGEETKVQHTALLLPVETLNIERPEPSLKIVELDDTY EEEFEEAENIVPYKVKLADADSQRSCAFHDCQKNSFPYENGIHQHHVFDKGKRDFLNLCLRNSSTYYKDNSKAETSNTDF DNIVDPDVYSSDIEKIEESTSFERNLKEKNIGLESNQKSDDSCVSLESKDTLLGRDLEKAPIEEKLSQDIKESLELSNLY KRPSFEESKTTKSSLLLQEIACRSKPITKQYQGLERFFIFDTNERLNLLPSHRLECNNSSTRITLAGQKSQRPSTANFPL SNSVKESSSCLSSSHPRSRSAAAQSSSRAASEISEIEYIDITDQNELSLDDTTDQHTLDNLEKELQVLRSLADTSEKLYS LTSEEFPDFSSQSLNISQISTDFLKTSHVRGPCGVEELSCSGRDTKIQSLLSLSESSTDEEEEDFLNKQHVITLPWSKST *

Gene Symbol:	ZBBX
Accession:	XM_047448952
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	281

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRKDFVVLPWGKPGNSVKLKYRNAQELRMEKVQLEFENQEMEKKLQEFRSTRNKEKEDRESSEYYWKSGKVGKLVNQSY MMSQNKGNVVKFSAGKVKLKLLKEQIQEPVKPTVNYKMANSSECEKPKINGKVCGQCENKAALLVCLECGEDYCSGCFAK VHQKGALKLHRTTLLQAKSQILFNVLDVAHQFIKDVNPDEPKEENNSTKETSKIQHKPKSVLLQRSSSEVEITTMKRAQR TKPRKSLLCEGSFDEEASAQSFQEVLSQWRTGNHDDNKKQDLHAAVKDSLEECEVQTNLKIWREPLNIELKEDILSYMEK LWLKKHRRTPQEQLFKMLPDTFPHPHETTGDAQCSQNENDEDSDGEETKVQHTALLLPVETLNIERPEPSLKIVELDDTY EEEFEEAENIVPYKVKLADADSQRSCAFHDCQKNSFPYENGIHQHHVFDKGKRDFLNLCLRNSSTYYKDNSKAETSNTDF DNIVDPDVYSSDIEKIEESTSFERNLKEKNIGLESNQKSDDSCVSLESKDTLLGRDLEKAPIEEKLSQDIKESLELSNLY KRPSFEESKTTKSSLLLQEIACRSKPITKQYQGLERFFIFDTNERLNLLPSHRLECNNSSTRITLAEDREWIPDHSLSEY ADNAIVLGVLQGAQSPSSSRKQQKMGQKSQRPSTANFPLSNSVKESSSCLSSSHPRSRSAAAQSSSRAASEISEIEYIDI TDQNELSLDDTTDQHTLDNLEKELQVLRSLADTSEKLYSLTSEEFPDFSSQSLNISQISTDFLKTSHVRGPCGVEELSCS GRDTKIQSLLSLSESSTDEEEEDFLNKQHVITLPWSKST*

Gene Symbol:	ZBBX
Accession:	XM_047448951
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	252

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEKVQLEFENQEMEKKLQEFRSTRNKEKEDRESSEYYWKSGKVGKLVNQSYMMSQNKGNVVKFSAGKVKLKLLKEQIQEP VKPTVNYKMANSSECEKPKINGKVCGQCENKAALLVCLECGEDYCSGCFAKVHQKGALKLHRTTLLQAKSQILFNVLDVA HQFIKDVNPDEPKEENNSTKETSKIQHKPKSVLLQRSSSEVEITTMKRAQRTKPRKSLLCEGSFDEEASAQSFQEVLSQW RTGNHDDNKKQDLHAAVKDSLEECEVQTNLKIWREPLNIELKEDILSYMEKLWLKKHRRTPQEQLFKMLPDTFPHPHETT GDAQCSQNENDEDSDGEETKVQHTALLLPVETLNIERPEPSLKIVELDDTYEEEFEEAENIVPYKVKLADADSQRSCAFH DCQKNSFPYENGIHQHHVFDKGKRDFLNLCLRNSSTYYKDNSKAETSNTDFDNIVDPDVYSSDIEKIEESTSFERNLKEK NIGLESNQKSDDSCVSLESKDTLLGRDLEKAPIEEKLSQDIKESLELSNLYKRPSFEESKTTKSSLLLQEIACRSKPITK QYQGLERFFIFDTNERLNLLPSHRLECNNSSTRITLAEDREWIPDHSLSEYADNAIVLGVLQGAQSPSSSRKQQKMGANM LKKPTKSTFKTGQKSQRPSTANFPLSNSVKESSSCLSSSHPRSRSAAAQSSSRAASEISEIEYIDITDQNELSLDDTTDQ HTLDNLEKELQVLRSLADTSEKLYSLTSEEFPDFSSQSLNISQISTDFLKTSHVRGPCGVEELSCSGRDTKIQSLLSLSE SSTDEEEEDFLNKQHVITLPWSKRLLFAAPLEEECVCFPFHHDFLRPPPPC*

Gene Symbol:	ZBBX
Accession:	XM_047448954
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	201

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMSQNKGNVVKFSAGKVKLKLLKEQIQEPVKPTVNYKMANSSECEKPKINGKVCGQCENKAALLVCLECGEDYCSGCFAK VHQKGALKLHRTTLLQAKSQILFNVLDVAHQFIKDVNPDEPKEENNSTKETSKIQHKPKSVLLQRSSSEVEITTMKRAQR TKPRKSLLCEGSFDEEASAQSFQEVLSQWRTGNHDDNKKQDLHAAVKDSLEECEVQTNLKIWREPLNIELKEDILSYMEK LWLKKHRRTPQEQLFKMLPDTFPHPHETTGDAQCSQNENDEDSDGEETKVQHTALLLPVETLNIERPEPSLKIVELDDTY EEEFEEAENIVPYKVKLADADSQRSCAFHDCQKNSFPYENGIHQHHVFDKGKRDFLNLCLRNSSTYYKDNSKAETSNTDF DNIVDPDVYSSDIEKIEESTSFERNLKEKNIGLESNQKSDDSCVSLESKDTLLGRDLEKAPIEEKLSQDIKESLELSNLY KRPSFEESKTTKSSLLLQEIACRSKPITKQYQGLERFFIFDTNERLNLLPSHRLECNNSSTRITLAEDREWIPDHSLSEY ADNAIVLGVLQGAQSPSSSRKQQKMGANMLKKPTKSTFKTGQKSQRPSTANFPLSNSVKESSSCLSSSHPRSRSAAAQSS SRAASEISEIEYIDITDQNELSLDDTTDQHTLDNLEKELQVLRSLADTSEKLYSLTSEEFPDFSSQSLNISQISTDFLKT SHVRGPCGVEELSCSGRDTKIQSLLSLSESSTDEEEEDFLNKQHVITLPWSKRLLFAAPLEEECVCFPFHHDFLRPPPPC *

Gene Symbol:	ZBBX
Accession:	XM_047448955
Location:	EXON
Amino Acid Prediction:	N to D (nonsynonymous)
Amino Acid Position:	281

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNRKDFVVLPWGKPGNSVKLKYRNAQELRMEKVQLEFENQEMEKKLQEFRSTRNKEKEDRESSEYYWKSGKVGKLVNQSY MMSQNKGNVVKFSAGKVKLKLLKEQIQEPVKPTVNYKMANSSECEKPKINGKVCGQCENKAALLVCLECGEDYCSGCFAK VHQKGALKLHRTTLLQAKSQILFNVLDVAHQFIKDVNPDEPKEENNSTKETSKIQHKPKSVLLQRSSSEVEITTMKRAQR TKPRKSLLCEGSFDEEASAQSFQEVLSQWRTGNHDDNKKQDLHAAVKDSLEECEVQTNLKIWREPLNIELKEDILSYMEK LWLKKHRRTPQEQLFKMLPDTFPHPHETTGDAQCSQNENDEDSDGEETKVQHTALLLPVETLNIERPEPSLKIVELDDTY EEEFEEAENIVPYKVKLADADSQRSCAFHDCQKNSFPYENGIHQHHVFDKGKRDFLNLCLRNSSTYYKDNSKAETSNTDF DNIVDPDVYSSDIEKIEESTSFERNLKEKNIGLESNQKSDDSCVSLESKDTLLGRDLEKAPIEEKLSQDIKESLELSNLY KRPSFEESKTTKSSLLLQEIACRSKPITKQYQGLERFFIFDTNERLNLLPSHRLECNNSSTRITLAEDREWIPDHSLSEY ADNAIVLGVLQGAQSPSSSRKQQKMGANMLKKPTKSTFKTGQKSQRPSTANFPLSNSVKESSSCLSSSHPRSRSAAAQSS SRAASEISEIEYIDITDQNELSLDDTTDQHTLDNLEKELQVLRSLAGCIHFFFLSSMKNNHVKELGE*

Gene Symbol:	ZBBX
Accession:	XR_924174
Location:	EXON;NON-CODING

Gene Symbol:	ZBBX
Accession:	XR_924173
Location:	EXON;NON-CODING

Gene Symbol:	ZBBX
Accession:	XR_924177
Location:	EXON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV003292176	CLINVAR
MedGen	C0950123	CLINVAR
NCBI Gene	ZBBX	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)

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Variant: RGD:401739762 - Homo sapiens

Imported Disease Annotations - ClinVar