RGD:151779688 Rat Genome Database

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RGD ID:

151779688

RS ID:

rs373330887

ClinVar ID:

CV1496992

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	9	116,153,188
GRCh38	9	113,390,908

JBrowse:

Model

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001317745.2:c.263C>T NM_000031.6:c.287C>T NM_001003945.3:c.374C>T NG_008716.1:g.15431C>T More...	08/24/2021	missense variant	uncertain significance	none provided

Variant Details

Variant Transcripts

Gene Symbol:	ALAD
Accession:	XM_047422944
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	138

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNQLWTLPCRSSVYWHETEPAANAPGALGSNQLMPLCPLAHAMQPQSVLHSGYFHPLLRAWQTATTTLNASNLIYPIFVT DVPDDIQPITSLPGVARYGVKRLEEMLRPLVEEGLRCVLIFGVPSRVPKDERGSAADFEESPAIEAIHLLRKTFPNLLVA CDVCLCPYTSHGHCGLLSENGAFRAEESRQRLAEVALAYAKAGCQVVAPSDMMDGRVEAIKEALMAHGLGNRVSVMSYSA KFASCFYGPFRDAAKSSPAFGDRRCYQLPPGARGLALRAVDRDVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHV SGEFAMLWHGAQAGAFDLKAAVLEAMTAFRRAGADIIITYYTPQLLQWLKEE*

Gene Symbol:	ALAD
Accession:	XM_047422946
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	125

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPTSSTPSLSRPGLGQAGKPDTGSHPPPTISTSIFLSCFPTIPLSRPRTTGPSHSYQSISHPRSCRDVPDDIQPITSLP GVARYGVKRLEEMLRPLVEEGLRCVLIFGVPSRVPKDERGSAADFEESPAIEAIHLLRKTFPNLLVACDVCLCPYTSHGH CGLLSENGAFRAEESRQRLAEVALAYAKAGCQVVAPSDMMDGRVEAIKEALMAHGLGNRVSVMSYSAKFASCFYGPFRDA AKSSPAFGDRRCYQLPPGARGLALRAVDRDVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHVSGEFAMLWHGAQA GAFDLKAAVLEAMTAFRRAGADIIITYYTPQLLQWLKEE*

Gene Symbol:	ALAD
Accession:	NM_001003945
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	125

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPTSSTPSLSRPGLGQAGKPDTGSHPPPTISTSIFLSCFPTIPLSRPRTTGPSHSYQSISHPRSCRDVPDDIQPITSLP GVARYGVKRLEEMLRPLVEEGLRCVLIFGVPSRVPKDERGSAADFEESPAIEAIHLLRKTFPNLLVACDVCLCPYTSHGH CGLLSENGAFRAEESRQRLAEVALAYAKAGCQVVAPSDMMDGRVEAIKEALMAHGLGNRVSVMSYSAKFASCFYGPFRDA AKSSPAFGDRRCYQLPPGARGLALRAVDRDVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHVSGEFAMLWHGAQA GAFDLKAAVLEAMTAFRRAGADIIITYYTPQLLQWLKEE*

Gene Symbol:	ALAD
Accession:	XM_011518364
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	105

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPLCPLAHAMQPQSVLHSGYFHPLLRAWQTATTTLNASNLIYPIFVTDVPDDIQPITSLPGVARYGVKRLEEMLRPLVEE GLRCVLIFGVPSRVPKDERGSAADFEESPAIEAIHLLRKTFPNLLVACDVCLCPYTSHGHCGLLSENGAFRAEESRQRLA EVALAYAKAGCQVVAPSDMMDGRVEAIKEALMAHGLGNRVSVMSYSAKFASCFYGPFRDAAKSSPAFGDRRCYQLPPGAR GLALRAVDRDVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHVSGEFAMLWHGAQAGAFDLKAAVLEAMTAFRRAG ADIIITYYTPQLLQWLKEE*

Gene Symbol:	ALAD
Accession:	XM_047422947
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	33

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRPLVEEGLRCVLIFGVPSRVPKDERGSAADFEESPAIEAIHLLRKTFPNLLVACDVCLCPYTSHGHCGLLSENGAFRA EESRQRLAEVALAYAKAGCQVVAPSDMMDGRVEAIKEALMAHGLGNRVSVMSYSAKFASCFYGPFRDAAKSSPAFGDRRC YQLPPGARGLALRAVDRDVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHVSGEFAMLWHGAQAGAFDLKAAVLEA MTAFRRAGADIIITYYTPQLLQWLKEE*

Gene Symbol:	ALAD
Accession:	XM_047422945
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	138

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNQLWTLPCRSSVYWHETEPAANAPGALGSNQLMPLCPLAHAMQPQSVLHSGYFHPLLRAWQTATTTLNASNLIYPIFVT DVPDDIQPITSLPGVARYGVKRLEEMLRPLVEEGLRCVLIFGVPSRVPKDERGSAADFEESPAIEAIHLLRKTFPNLLVA CDVCLCPYTSHGHCGLLSENGAFRAEESRQRLAEVALAYAKAGCQVVAPSDMMDGRVEAIKEALMAHGLGNRVSVMSYSA KFASCFYGPFRDAAKSSPAFGDRRCYQLPPGARGLALRAVDRDVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHV SGEFAMLWHGAQAGAFDLKAAVLEAMTAFRRAGADIIITYYTPQLLQWLKEE*

Gene Symbol:	ALAD
Accession:	NM_000031
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	96

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQPQSVLHSGYFHPLLRAWQTATTTLNASNLIYPIFVTDVPDDIQPITSLPGVARYGVKRLEEMLRPLVEEGLRCVLIFG VPSRVPKDERGSAADFEESPAIEAIHLLRKTFPNLLVACDVCLCPYTSHGHCGLLSENGAFRAEESRQRLAEVALAYAKA GCQVVAPSDMMDGRVEAIKEALMAHGLGNRVSVMSYSAKFASCFYGPFRDAAKSSPAFGDRRCYQLPPGARGLALRAVDR DVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHVSGEFAMLWHGAQAGAFDLKAAVLEAMTAFRRAGADIIITYYT PQLLQWLKEE*

Gene Symbol:	ALAD
Accession:	NM_001317745
Location:	EXON
Amino Acid Prediction:	S to F (nonsynonymous)
Amino Acid Position:	88

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPLCPLAHAMQPQSVLHSGYFHPLLRAWQTATTTLNASNLIYPIFVTYGVKRLEEMLRPLVEEGLRCVLIFGVPSRVPKD ERGSAADFEESPAIEAIHLLRKTFPNLLVACDVCLCPYTSHGHCGLLSENGAFRAEESRQRLAEVALAYAKAGCQVVAPS DMMDGRVEAIKEALMAHGLGNRVSVMSYSAKFASCFYGPFRDAAKSSPAFGDRRCYQLPPGARGLALRAVDRDVREGADM LMVKPGMPYLDIVREVKDKHPDLPLAVYHVSGEFAMLWHGAQAGAFDLKAAVLEAMTAFRRAGADIIITYYTPQLLQWLK EE*

Variant Samples

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

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InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

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