RGD:28867318 Rat Genome Database

Variant: RGD:28867318 - Homo sapiens

RGD ID:

28867318

RS ID:

rs1810684992

ClinVar ID:

CV899157

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

TUSC3

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	8	15,588,214
GRCh38	8	15,730,705

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
NP_001343358.1:p.Glu280Lys NC_000008.10:g.15588214G>A NM_006765.3:c.838G>A NC_000008.11:g.15730705G>A More...	01/13/2018	missense variant	uncertain significance	Carbohydrate-deficient glycoprotein syndrome; Congenital disorders of glycosylation

Disease Annotations Click to see Annotation Detail View

congenital disorder of glycosylation (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	TUSC3
Accession:	XM_047422264
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	224

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEWSSRRSIFRMNGDKFRKFIKAPPRNYSMIVMFTALQPQRQCSVCRQANEEYQILANSWRYSSAFCNKLFFSMVDYDEG TDVFQQLNMNSAPTFMHFPPKGRPKRADTFDLQRIGFAAEQLAKWIADRTDVHIRVFRPPNYSGTIALALLVSLVGGLLY LRRNNLEFIYNKTGWAMVSLCIVFAMTSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAKSHIILVLNAAITMGMV LLNEAATSKGDVGKRRIICLVGLGLVVFFFSFLLSIFRSKYHGYPYSFLIK*

Gene Symbol:	TUSC3
Accession:	NM_001413689
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	280

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGARGAPSRRRQAGRRLRYLPTGSFPFLLLLLLLCIQLGGGQKKKENLLAEKVEQLMEWSSRRSIFRMNGDKFRKFIKAP PRNYSMIVMFTALQPQRQCSVCRQANEEYQILANSWRYSSAFCNKLFFSMVDYDEGTDVFQQLNMNSAPTFMHFPPKGRP KRADTFDLQRIGFAAEQLAKWIADRTDVHIRVFRPPNYSGTIALALLVSLVGGLLYLRRNNLEFIYNKTGWAMVSLCIVF AMTSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAKSHIILVLNAAITMGMVLLNEAATSKGDVGKRRIICLVGLG LVVFFFSFLLSIFRSKYHGYPYSDLDFE*

Gene Symbol:	TUSC3
Accession:	NM_001413686
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	280

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGARGAPSRRRQAGRRLRYLPTGSFPFLLLLLLLCIQLGGGQKKKENLLAEKVEQLMEWSSRRSIFRMNGDKFRKFIKAP PRNYSMIVMFTALQPQRQCSVCRQANEEYQILANSWRYSSAFCNKLFFSMVDYDEGTDVFQQLNMNSAPTFMHFPPKGRP KRADTFDLQRIGFAAEQLAKWIADRTDVHIRVFRPPNYSGTIALALLVSLVGGLLYLRRNNLEFIYNKTGWAMVSLCIVF AMTSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAKSHIILVLNAAITMGMVLLNEAATSKGDVGKRRIICLVGLG LVVFFFSFLLSIFRSKYHGYPYSSVFKDHAD*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	280

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGARGAPSRRRQAGRRLRYLPTGSFPFLLLLLLLCIQLGGGQKKKENLLAEKVEQLMEWSSRRSIFRMNGDKFRKFIKAP PRNYSMIVMFTALQPQRQCSVCRQANEEYQILANSWRYSSAFCNKLFFSMVDYDEGTDVFQQLNMNSAPTFMHFPPKGRP KRADTFDLQRIGFAAEQLAKWIADRTDVHIRVFRPPNYSGTIALALLVSLVGGLLYLRRNNLEFIYNKTGWAMVSLCIVF AMTSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAKSHIILVLNAAITMGMVLLNEAATSKGDVGKRRIICLVGLG LVVFFFSFLLSIFRSKYHGYPYSDLDFE*

Gene Symbol:	TUSC3
Accession:	NM_001413677
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	136

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNSAPTFMHFPPKGRPKRADTFDLQRIGFAAEQLAKWIADRTDVHIRVFRPPNYSGTIALALLVSLVGGLLYLRRNNLEF IYNKTGWAMVSLCIVFAMTSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAKSHIILVLNAAITMGMVLLNEAATS KGDVGKRRIICLVGLGLVVFFFSFLLSIFRSKYHGYPYSFLIK*

Gene Symbol:	TUSC3
Accession:	NM_006765
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	280

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGARGAPSRRRQAGRRLRYLPTGSFPFLLLLLLLCIQLGGGQKKKENLLAEKVEQLMEWSSRRSIFRMNGDKFRKFIKAP PRNYSMIVMFTALQPQRQCSVCRQANEEYQILANSWRYSSAFCNKLFFSMVDYDEGTDVFQQLNMNSAPTFMHFPPKGRP KRADTFDLQRIGFAAEQLAKWIADRTDVHIRVFRPPNYSGTIALALLVSLVGGLLYLRRNNLEFIYNKTGWAMVSLCIVF AMTSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAKSHIILVLNAAITMGMVLLNEAATSKGDVGKRRIICLVGLG LVVFFFSFLLSIFRSKYHGYPYSDLDFE*

Gene Symbol:	TUSC3
Accession:	XM_047422265
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	224

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEWSSRRSIFRMNGDKFRKFIKAPPRNYSMIVMFTALQPQRQCSVCRQANEEYQILANSWRYSSAFCNKLFFSMVDYDEG TDVFQQLNMNSAPTFMHFPPKGRPKRADTFDLQRIGFAAEQLAKWIADRTDVHIRVFRPPNYSGTIALALLVSLVGGLLY LRRNNLEFIYNKTGWAMVSLCIVFAMTSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAKSHIILVLNAAITMGMV LLNEAATSKGDVGKRRTF*

Gene Symbol:	TUSC3
Accession:	NM_001413673
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	280

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGARGAPSRRRQAGRRLRYLPTGSFPFLLLLLLLCIQLGGGQKKKENLLAEKVEQLMEWSSRRSIFRMNGDKFRKFIKAP PRNYSMIVMFTALQPQRQCSVCRQANEEYQILANSWRYSSAFCNKLFFSMVDYDEGTDVFQQLNMNSAPTFMHFPPKGRP KRADTFDLQRIGFAAEQLAKWIADRTDVHIRVFRPPNYSGTIALALLVSLVGGLLYLRRNNLEFIYNKTGWAMVSLCIVF AMTSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAKSHIILVLNAAITMGMVLLNEAATSKGDVGKRRIICLVGLG LVVFFFSFLLSIFRSKYHGYPYREKSSDKNVYQKTDTWS*

Gene Symbol:	TUSC3
Accession:	NM_001413674
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	280

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGARGAPSRRRQAGRRLRYLPTGSFPFLLLLLLLCIQLGGGQKKKENLLAEKVEQLMEWSSRRSIFRMNGDKFRKFIKAP PRNYSMIVMFTALQPQRQCSVCRQANEEYQILANSWRYSSAFCNKLFFSMVDYDEGTDVFQQLNMNSAPTFMHFPPKGRP KRADTFDLQRIGFAAEQLAKWIADRTDVHIRVFRPPNYSGTIALALLVSLVGGLLYLRRNNLEFIYNKTGWAMVSLCIVF AMTSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAKSHIILVLNAAITMGMVLLNEAATSKGDVGKRRTF*

Gene Symbol:	TUSC3
Accession:	NM_001413684
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	280

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGARGAPSRRRQAGRRLRYLPTGSFPFLLLLLLLCIQLGGGQKKKENLLAEKVEQLMEWSSRRSIFRMNGDKFRKFIKAP PRNYSMIVMFTALQPQRQCSVCRQANEEYQILANSWRYSSAFCNKLFFSMVDYDEGTDVFQQLNMNSAPTFMHFPPKGRP KRADTFDLQRIGFAAEQLAKWIADRTDVHIRVFRPPNYSGTIALALLVSLVGGLLYLRRNNLEFIYNKTGWAMVSLCIVF AMTSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAKSHIILVLNAAITMGMVLLNEAATSKGDVGKRRIICLVGLG LVVFFFSFLLSIFRSKYHGYPYRYLPNSASFFAASGDTLGAFGNQRKKSHTCCLDFPYANRCRLFHCKLSQGHQ*

Gene Symbol:	TUSC3
Accession:	NM_178234
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	280

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGARGAPSRRRQAGRRLRYLPTGSFPFLLLLLLLCIQLGGGQKKKENLLAEKVEQLMEWSSRRSIFRMNGDKFRKFIKAP PRNYSMIVMFTALQPQRQCSVCRQANEEYQILANSWRYSSAFCNKLFFSMVDYDEGTDVFQQLNMNSAPTFMHFPPKGRP KRADTFDLQRIGFAAEQLAKWIADRTDVHIRVFRPPNYSGTIALALLVSLVGGLLYLRRNNLEFIYNKTGWAMVSLCIVF AMTSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAKSHIILVLNAAITMGMVLLNEAATSKGDVGKRRIICLVGLG LVVFFFSFLLSIFRSKYHGYPYSFLIK*

Gene Symbol:	TUSC3
Accession:	NM_001413671
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	224

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEWSSRRSIFRMNGDKFRKFIKAPPRNYSMIVMFTALQPQRQCSVCRQANEEYQILANSWRYSSAFCNKLFFSMVDYDEG TDVFQQLNMNSAPTFMHFPPKGRPKRADTFDLQRIGFAAEQLAKWIADRTDVHIRVFRPPNYSGTIALALLVSLVGGLLY LRRNNLEFIYNKTGWAMVSLCIVFAMTSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAKSHIILVLNAAITMGMV LLNEAATSKGDVGKRRIICLVGLGLVVFFFSFLLSIFRSKYHGYPYSDLDFE*

Gene Symbol:	TUSC3
Accession:	NM_001413670
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	260

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLYRLVTNSWALVIHPTRPPKVLGLQNLLAEKVEQLMEWSSRRSIFRMNGDKFRKFIKAPPRNYSMIVMFTALQPQRQCS VCRQANEEYQILANSWRYSSAFCNKLFFSMVDYDEGTDVFQQLNMNSAPTFMHFPPKGRPKRADTFDLQRIGFAAEQLAK WIADRTDVHIRVFRPPNYSGTIALALLVSLVGGLLYLRRNNLEFIYNKTGWAMVSLCIVFAMTSGQMWNHIRGPPYAHKN PHNGQVSYIHGSSQAQFVAKSHIILVLNAAITMGMVLLNEAATSKGDVGKRRIICLVGLGLVVFFFSFLLSIFRSKYHGY PYSFLIK*

Gene Symbol:	TUSC3
Accession:	NM_001413672
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	224

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEWSSRRSIFRMNGDKFRKFIKAPPRNYSMIVMFTALQPQRQCSVCRQANEEYQILANSWRYSSAFCNKLFFSMVDYDEG TDVFQQLNMNSAPTFMHFPPKGRPKRADTFDLQRIGFAAEQLAKWIADRTDVHIRVFRPPNYSGTIALALLVSLVGGLLY LRRNNLEFIYNKTGWAMVSLCIVFAMTSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAKSHIILVLNAAITMGMV LLNEAATSKGDVGKRRIICLVGLGLVVFFFSFLLSIFRSKYHGYPYSFLIK*

Gene Symbol:	TUSC3
Accession:	NM_001413669
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	224

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEWSSRRSIFRMNGDKFRKFIKAPPRNYSMIVMFTALQPQRQCSVCRQANEEYQILANSWRYSSAFCNKLFFSMVDYDEG TDVFQQLNMNSAPTFMHFPPKGRPKRADTFDLQRIGFAAEQLAKWIADRTDVHIRVFRPPNYSGTIALALLVSLVGGLLY LRRNNLEFIYNKTGWAMVSLCIVFAMTSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAKSHIILVLNAAITMGMV LLNEAATSKGDVGKRRIICLVGLGLVVFFFSFLLSIFRSKYHGYPYSFLIK*

Gene Symbol:	TUSC3
Accession:	NM_001413583
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	280

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGARGAPSRRRQAGRRLRYLPTGSFPFLLLLLLLCIQLGGGQKKKENLLAEKVEQLMEWSSRRSIFRMNGDKFRKFIKAP PRNYSMIVMFTALQPQRQCSVCRQANEEYQILANSWRYSSAFCNKLFFSMVDYDEGTDVFQQLNMNSAPTFMHFPPKGRP KRADTFDLQRIGFAAEQLAKWIADRTDVHIRVFRPPNYSGTIALALLVSLVGGLLYLRRNNLEFIYNKTGWAMVSLCIVF AMTSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAKSHIILVLNAAITMGMVLLNEAATSKGDVGKRRIICLVGLG LVVFFFSFLLSIFRSKYHGYPYSDLDFE*

Gene Symbol:	TUSC3
Accession:	XM_047422263
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	224

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEWSSRRSIFRMNGDKFRKFIKAPPRNYSMIVMFTALQPQRQCSVCRQANEEYQILANSWRYSSAFCNKLFFSMVDYDEG TDVFQQLNMNSAPTFMHFPPKGRPKRADTFDLQRIGFAAEQLAKWIADRTDVHIRVFRPPNYSGTIALALLVSLVGGLLY LRRNNLEFIYNKTGWAMVSLCIVFAMTSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAKSHIILVLNAAITMGMV LLNEAATSKGDVGKRRIICLVGLGLVVFFFSFLLSIFRSKYHGYPYRHAVVLTVKSSVWRKYIHP*

Gene Symbol:	TUSC3
Accession:	NM_001413690
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	278

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGARGAPSRRRQAGRRLRYLPTGSFPFLLLLLLLCIQLGGGQKKKENLLAEKVEQLMEWSSRRSIFRMNGDKFRKFIKAP PRNYSMIVMFTALQPQRQCSVQANEEYQILANSWRYSSAFCNKLFFSMVDYDEGTDVFQQLNMNSAPTFMHFPPKGRPKR ADTFDLQRIGFAAEQLAKWIADRTDVHIRVFRPPNYSGTIALALLVSLVGGLLYLRRNNLEFIYNKTGWAMVSLCIVFAM TSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAKSHIILVLNAAITMGMVLLNEAATSKGDVGKRRIICLVGLGLV VFFFSFLLSIFRSKYHGYPYSFLIK*

Gene Symbol:	TUSC3
Accession:	NM_001413682
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	280

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGARGAPSRRRQAGRRLRYLPTGSFPFLLLLLLLCIQLGGGQKKKENLLAEKVEQLMEWSSRRSIFRMNGDKFRKFIKAP PRNYSMIVMFTALQPQRQCSVCRQANEEYQILANSWRYSSAFCNKLFFSMVDYDEGTDVFQQLNMNSAPTFMHFPPKGRP KRADTFDLQRIGFAAEQLAKWIADRTDVHIRVFRPPNYSGTIALALLVSLVGGLLYLRRNNLEFIYNKTGWAMVSLCIVF AMTSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAKSHIILVLNAAITMGMVLLNEAATSKGDVGKRRSVVSHVAA VVPLIIINPSLH*

Gene Symbol:	TUSC3
Accession:	NM_001413679
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	280

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGARGAPSRRRQAGRRLRYLPTGSFPFLLLLLLLCIQLGGGQKKKENLLAEKVEQLMEWSSRRSIFRMNGDKFRKFIKAP PRNYSMIVMFTALQPQRQCSVCRQANEEYQILANSWRYSSAFCNKLFFSMVDYDEGTDVFQQLNMNSAPTFMHFPPKGRP KRADTFDLQRIGFAAEQLAKWIADRTDVHIRVFRPPNYSGTIALALLVSLVGGLLYLRRNNLEFIYNKTGWAMVSLCIVF AMTSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAKSHIILVLNAAITMGMVLLNEAATSKGDVGKRRSTCPTLPP SSLLLVILWVHLETREKNHTHVVLTSLMQTGVDYFIVNFLRVISDFKPGSYKITELFISHNIPDTITCKDNEVIIFFRSF SVMDFRLW*

Gene Symbol:	TUSC3
Accession:	NM_001356429
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	280

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGARGAPSRRRQAGRRLRYLPTGSFPFLLLLLLLCIQLGGGQKKKENLLAEKVEQLMEWSSRRSIFRMNGDKFRKFIKAP PRNYSMIVMFTALQPQRQCSVCRQANEEYQILANSWRYSSAFCNKLFFSMVDYDEGTDVFQQLNMNSAPTFMHFPPKGRP KRADTFDLQRIGFAAEQLAKWIADRTDVHIRVFRPPNYSGTIALALLVSLVGGLLYLRRNNLEFIYNKTGWAMVSLCIVF AMTSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAKSHIILVLNAAITMGMVLLNEAATSKGDVGKRRIICLVGLG LVVFFFSFLLSIFRSKYHGYPYSDLDFE*

Gene Symbol:	TUSC3
Accession:	NM_001413680
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	280

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGARGAPSRRRQAGRRLRYLPTGSFPFLLLLLLLCIQLGGGQKKKENLLAEKVEQLMEWSSRRSIFRMNGDKFRKFIKAP PRNYSMIVMFTALQPQRQCSVCRQANEEYQILANSWRYSSAFCNKLFFSMVDYDEGTDVFQQLNMNSAPTFMHFPPKGRP KRADTFDLQRIGFAAEQLAKWIADRTDVHIRVFRPPNYSGTIALALLVSLVGGLLYLRRNNLEFIYNKTGWAMVSLCIVF AMTSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAKSHIILVLNAAITMGMVLLNEAATSKGDVGKRRRSLPFPLI YQDLQLPQVLRHYVFKQVNSVAFL*

Gene Symbol:	TUSC3
Accession:	NM_001413691
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	280

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGARGAPSRRRQAGRRLRYLPTGSFPFLLLLLLLCIQLGGGQKKKENLLAEKVEQLMEWSSRRSIFRMNGDKFRKFIKAP PRNYSMIVMFTALQPQRQCSVCRQANEEYQILANSWRYSSAFCNKLFFSMVDYDEGTDVFQQLNMNSAPTFMHFPPKGRP KRADTFDLQRIGFAAEQLAKWIADRTDVHIRVFRPPNYSGTIALALLVSLVGGLLYLRRNNLEFIYNKTGWAMVSLCIVF AMTSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAKSHIILVLTS*

Gene Symbol:	TUSC3
Accession:	NM_001413685
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	280

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGARGAPSRRRQAGRRLRYLPTGSFPFLLLLLLLCIQLGGGQKKKENLLAEKVEQLMEWSSRRSIFRMNGDKFRKFIKAP PRNYSMIVMFTALQPQRQCSVCRQANEEYQILANSWRYSSAFCNKLFFSMVDYDEGTDVFQQLNMNSAPTFMHFPPKGRP KRADTFDLQRIGFAAEQLAKWIADRTDVHIRVFRPPNYSGTIALALLVSLVGGLLYLRRNNLEFIYNKTGWAMVSLCIVF AMTSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAKSHIILVLNAAITMGMVLLNEAATSKGDVGKRRNEETLIRE V*

Gene Symbol:	TUSC3
Accession:	NM_001413678
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	151

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVDYDEGTDVFQQLNMNSAPTFMHFPPKGRPKRADTFDLQRIGFAAEQLAKWIADRTDVHIRVFRPPNYSGTIALALLVS LVGGLLYLRRNNLEFIYNKTGWAMVSLCIVFAMTSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAKSHIILVLNA AITMGMVLLNEAATSKGDVGKRRIICLVGLGLVVFFFSFLLSIFRSKYHGYPYSFLIK*

Gene Symbol:	TUSC3
Accession:	NM_001413683
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	280

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGARGAPSRRRQAGRRLRYLPTGSFPFLLLLLLLCIQLGGGQKKKENLLAEKVEQLMEWSSRRSIFRMNGDKFRKFIKAP PRNYSMIVMFTALQPQRQCSVCRQANEEYQILANSWRYSSAFCNKLFFSMVDYDEGTDVFQQLNMNSAPTFMHFPPKGRP KRADTFDLQRIGFAAEQLAKWIADRTDVHIRVFRPPNYSGTIALALLVSLVGGLLYLRRNNLEFIYNKTGWAMVSLCIVF AMTSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAKSHIILVLNAAITMGMVLLNEAATSKGDVGKRRIICLVGLG LVVFFFSFLLSIFRSKYHGYPYSVFKDHAD*

Gene Symbol:	TUSC3
Accession:	NM_001413675
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	280

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGARGAPSRRRQAGRRLRYLPTGSFPFLLLLLLLCIQLGGGQKKKENLLAEKVEQLMEWSSRRSIFRMNGDKFRKFIKAP PRNYSMIVMFTALQPQRQCSVCRQANEEYQILANSWRYSSAFCNKLFFSMVDYDEGTDVFQQLNMNSAPTFMHFPPKGRP KRADTFDLQRIGFAAEQLAKWIADRTDVHIRVFRPPNYSGTIALALLVSLVGGLLYLRRNNLEFIYNKTGWAMVSLCIVF AMTSGQMWNHIRGPPYAHKNPHNGQVSYIHGSSQAQFVAKSHIILVLSILLRYRRIEKGKLKLHVFKLTFFLAVNIKTFK RH*

Gene Symbol:	TUSC3
Accession:	NR_182196
Location:	EXON;NON-CODING

Gene Symbol:	TUSC3
Accession:	NR_182195
Location:	EXON;NON-CODING

Gene Symbol:	TUSC3
Accession:	NR_182199
Location:	EXON;NON-CODING

Gene Symbol:	TUSC3
Accession:	NM_001413676
Location:	INTRON

Gene Symbol:	TUSC3
Accession:	NM_001413688
Location:	INTRON

Gene Symbol:	TUSC3
Accession:	NM_001413687
Location:	INTRON

Gene Symbol:	TUSC3
Accession:	NM_001413681
Location:	INTRON

Gene Symbol:	TUSC3
Accession:	NR_182197
Location:	INTRON;NON-CODING

Gene Symbol:	TUSC3
Accession:	NR_182198
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001161810	CLINVAR
dbSNP (RS)	rs1810684992	CLINVAR
MedGen	C0282577	CLINVAR
NCBI Gene	TUSC3	CLINVAR
OMIM	601385	CLINVAR
SNOMED CT	238049009	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)

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

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Variant: RGD:28867318 - Homo sapiens

Imported Disease Annotations - ClinVar