RGD:156136602 Rat Genome Database

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Variant: RGD:156136602 -  Homo sapiens

RGD ID: 156136602
ClinVar ID: CV2105801
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AKT2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 40,741,933
GRCh38 19 40,236,026
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1391t1:c.1039C>T
NM_001626.6:c.1039C>T
NM_001243027.3:c.853C>T
NM_001243028.3:c.853C>T
More... 		01/06/2023 missense variant uncertain significance Diabetes mellitus, noninsulin-dependent, late onset; DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Hypoglycemia, neonatal, simulating foetopathia diabetica; Hypoinsulinemic hypoglycemia and body hemihypertrophy; Hypoinsulinemic hypoglycemia and hemihypertrophy; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; Type II diabetes mellitus
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:AKT2
Accession:NM_001626
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 347
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNEVSVIKEGWLHKRGEYIKTWRPRYFLLKSDGSFIGYKERPEAPDQTLPPLNNFSVAECQLMKTERPRPNTFVIRCLQW
TTVIERTFHVDSPDEREEWMRAIQMVANSLKQRAPGEDPMDYKCGSPSDSSTTEEMEVAVSKARAKVTMNDFDYLKLLGK
GTFGKVILVREKATGRYYAMKILRKEVIIAKDEVAHTVTESRVLQNTRHPFLTALKYAFQTHDRLCFVMEYANGGELFFH
LSRERVFTEERARFYGAEIVSALEYLHSRDVVYRDIKLENLMLDKDGHIKITDFGLCKEGISDGATMKTFCGTPEYLAPE
VLEDNDYGRAVDWWGLGVVMYEMMCGCLPFYNQDHERLFELILMEEIRFPRTLSPEAKSLLAGLLKKDPKQRLGGGPSDA
KEVMEHRFFLSINWQDVVQKKLLPPFKPQVTSEVDTRYFDDEFTAQSITITPPDRYDSLGLLELDQRTHFPQFSYSASIR
E*

Gene Symbol:AKT2
Accession:NM_001243027
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 285
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTERPRPNTFVIRCLQWTTVIERTFHVDSPDEREEWMRAIQMVANSLKQRAPGEDPMDYKCGSPSDSSTTEEMEVAVSK
ARAKVTMNDFDYLKLLGKGTFGKVILVREKATGRYYAMKILRKEVIIAKDEVAHTVTESRVLQNTRHPFLTALKYAFQTH
DRLCFVMEYANGGELFFHLSRERVFTEERARFYGAEIVSALEYLHSRDVVYRDIKLENLMLDKDGHIKITDFGLCKEGIS
DGATMKTFCGTPEYLAPEVLEDNDYGRAVDWWGLGVVMYEMMCGCLPFYNQDHERLFELILMEEIRFPRTLSPEAKSLLA
GLLKKDPKQRLGGGPSDAKEVMEHRFFLSINWQDVVQKKLLPPFKPQVTSEVDTRYFDDEFTAQSITITPPDRYDSLGLL
ELDQRTHFPQFSYSASIRE*

Gene Symbol:AKT2
Accession:NM_001330511
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 304
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNEVSVIKEGWLHKRGEYIKTWRPRYFLLKSDGSFIGYKERPEAPDQTLPPLNNFSVAECQLMKTERPRPNTFVIRCLQW
TTVIERTFHVDSPDEREEWMRAIQMVANSLKQRAPGEDPMDYKCGSPSDSSTTEEMEVAVSKARAKVTMNDFDYLKLLGK
GTFGKVILVREKATGRYYAMKILRKEVIIAKDEVAHTVTESRVLQNTRHPFLTALKYAFQTHDRLCFVMEYANGGELFFH
LSRERVFTEERARFYGAEIVSALEYLHSRDVVYRDIKVLEDNDYGRAVDWWGLGVVMYEMMCGCLPFYNQDHERLFELIL
MEEIRFPRTLSPEAKSLLAGLLKKDPKQRLGGGPSDAKEVMEHRFFLSINWQDVVQKKLLPPFKPQVTSEVDTRYFDDEF
TAQSITITPPDRYDSLGLLELDQRTHFPQFSYSASIRE*

Gene Symbol:AKT2
Accession:NM_001243028
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 285
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKTERPRPNTFVIRCLQWTTVIERTFHVDSPDEREEWMRAIQMVANSLKQRAPGEDPMDYKCGSPSDSSTTEEMEVAVSK
ARAKVTMNDFDYLKLLGKGTFGKVILVREKATGRYYAMKILRKEVIIAKDEVAHTVTESRVLQNTRHPFLTALKYAFQTH
DRLCFVMEYANGGELFFHLSRERVFTEERARFYGAEIVSALEYLHSRDVVYRDIKLENLMLDKDGHIKITDFGLCKEGIS
DGATMKTFCGTPEYLAPEVLEDNDYGRAVDWWGLGVVMYEMMCGCLPFYNQDHERLFELILMEEIRFPRTLSPEAKSLLA
GLLKKDPKQRLGGGPSDAKEVMEHRFFLSINWQDVVQKKLLPPFKPQVTSEVDTRYFDDEFTAQSITITPPDRYDSLGLL
ELDQRTHFPQFSYSASIRE*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002914748 CLINVAR
  RCV003138401 CLINVAR
MedGen C0011860 CLINVAR
  C3661900 CLINVAR
NCBI Gene AKT2 CLINVAR
OMIM 125853 CLINVAR
  164731 CLINVAR
  240900 CLINVAR
SNOMED CT 44054006 CLINVAR