RGD:38597014 Rat Genome Database

Variant: RGD:38597014 - Homo sapiens

RGD ID:

38597014

RS ID:

rs201287148

ClinVar ID:

CV801840

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

TTI2

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	8	33,361,317
GRCh38	8	33,503,799

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_001102401.2:c.1064G>A NP_079391.2:p.Arg355His NM_025115.5:c.1064G>A NM_025115.3:c.1064G>A More...	01/01/2019	missense variant	uncertain significance	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 39; Microcephaly (disease)

Disease Annotations Click to see Annotation Detail View

autosomal recessive intellectual developmental disorder 39 (IAGP)

genetic disease (IAGP)

microcephaly (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Microcephaly (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	TTI2
Accession:	NM_001102401
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	355

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELDSALEAPSQEDSNLSEELSHSAFGQAFSKILHCLARPEARRGNVKDAVLKDLGDLIEATEFDRLFEGTGARLRGMPE TLGQVAKALEKYAAPSKEEEGGGDGHSEAAEKAAQVGLLFLKLLGKVETAKNSLVGPAWQTGLHHLAGPVYIFAITHSLE QPWTTPRSREVAREVLTSLLQVTECGSVAGFLHGENEDEKGRLSVILGLLKPDLYKESWKNNPAIKHVFSWTLQQVTRPW LSQHLERVLPASLVISDDYQTENKILGVHCLHHIVLNVPAADLLQYNRAQVLYHAISNHLYTPEHHLIQAVLLCLLDLFP ILEKTLHWKGDGARPTTHCDEVLRLILTHMEPEHHLLLRRTYARNLPAFVNRLGILTVRHLKRLERVIIGYLEVYDGPEE EARLKILETLKLLMQHTWPRVSCRLVVLLKALLKLICDVARDPNLTPESVKSALLQEATDCLILLDRCSQGRVKGLLAKI PQSCEDRKVVNYIRKVQQVSEGAPYNGT*

Gene Symbol:	TTI2
Accession:	NM_001265581
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	355

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELDSALEAPSQEDSNLSEELSHSAFGQAFSKILHCLARPEARRGNVKDAVLKDLGDLIEATEFDRLFEGTGARLRGMPE TLGQVAKALEKYAAPSKEEEGGGDGHSEAAEKAAQVGLLFLKLLGKVETAKNSLVGPAWQTGLHHLAGPVYIFAITHSLE QPWTTPRSREVAREVLTSLLQVTECGSVAGFLHGENEDEKGRLSVILGLLKPDLYKESWKNNPAIKHVFSWTLQQVTRPW LSQHLERVLPASLVISDDYQTENKILGVHCLHHIVLNVPAADLLQYNRAQVLYHAISNHLYTPEHHLIQAVLLCLLDLFP ILEKTLHWKGDGARPTTHCDEVLRLILTHMEPEHHLLLRRTYARNLPAFVNRLGILTVRHLKRLERVIIGYLEVYDGPEE EARLKILETLKLLMQHTWPRVSCRLVVLLKALLKLICDVARDPNLTPESVKSALLQEATDCLILLDRCSQGRVKGLLAKI PQSCEDRKVVNYIRKVQQVSEGAPYNGT*

Gene Symbol:	TTI2
Accession:	NM_001330505
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	324

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELDSALEAPSQEDSNLSEELSHSAFGQAFSKILHCLARPEARRGNVKDAVLKDLGDLIEATEFDRLFEGTGARLRGMPE TLGQVAKALEKYAAPSKEEEGGGDGHSEAAEKAAQVGLLFLKLLGKVETAKNSLVGPAWQTGLHHLAGPVYIFAITHSLE QPWTTPRSREVAREVLTSLLQVTECGSVAGFLHGENEDEKGRLSVILGLLKPDLYKESWKNNPAIKHVFSWTLQQVTRPW LSQHLERVLPASLVISDDYQTENKILGVHCLHHIVLNVAVLLCLLDLFPILEKTLHWKGDGARPTTHCDEVLRLILTHME PEHHLLLRRTYARNLPAFVNRLGILTVRHLKRLERVIIGYLEVYDGPEEEARLKILETLKLLMQHTWPRVSCRLVVLLKA LLKLICDVARDPNLTPESVKSALLQEATDCLILLDRCSQGRVKGLLAKIPQSCEDRKVVNYIRKVQQVSEGAPYNGT*

Gene Symbol:	TTI2
Accession:	NM_025115
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	355

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELDSALEAPSQEDSNLSEELSHSAFGQAFSKILHCLARPEARRGNVKDAVLKDLGDLIEATEFDRLFEGTGARLRGMPE TLGQVAKALEKYAAPSKEEEGGGDGHSEAAEKAAQVGLLFLKLLGKVETAKNSLVGPAWQTGLHHLAGPVYIFAITHSLE QPWTTPRSREVAREVLTSLLQVTECGSVAGFLHGENEDEKGRLSVILGLLKPDLYKESWKNNPAIKHVFSWTLQQVTRPW LSQHLERVLPASLVISDDYQTENKILGVHCLHHIVLNVPAADLLQYNRAQVLYHAISNHLYTPEHHLIQAVLLCLLDLFP ILEKTLHWKGDGARPTTHCDEVLRLILTHMEPEHHLLLRRTYARNLPAFVNRLGILTVRHLKRLERVIIGYLEVYDGPEE EARLKILETLKLLMQHTWPRVSCRLVVLLKALLKLICDVARDPNLTPESVKSALLQEATDCLILLDRCSQGRVKGLLAKI PQSCEDRKVVNYIRKVQQVSEGAPYNGT*

Gene Symbol:	TTI2
Accession:	XM_047422266
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	324

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELDSALEAPSQEDSNLSEELSHSAFGQAFSKILHCLARPEARRGNVKDAVLKDLGDLIEATEFDRLFEGTGARLRGMPE TLGQVAKALEKYAAPSKEEEGGGDGHSEAAEKAAQVGLLFLKLLGKVETAKNSLVGPAWQTGLHHLAGPVYIFAITHSLE QPWTTPRSREVAREVLTSLLQVTECGSVAGFLHGENEDEKGRLSVILGLLKPDLYKESWKNNPAIKHVFSWTLQQVTRPW LSQHLERVLPASLVISDDYQTENKILGVHCLHHIVLNVAVLLCLLDLFPILEKTLHWKGDGARPTTHCDEVLRLILTHME PEHHLLLRRTYARNLPAFVNRLGILTVRHLKRLERVIIGYLEVYDGPEEEARLKILETLKLLMQHTWPRVSCRLVVLLKA LLKLICDVARDPNLTPESVKSALLQEATDCLILLDRCSQGRVKGLLAKIPQSCEDRKVVNYIRKVQQVSEGAPYNGT*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001252791	CLINVAR
	RCV001262440	CLINVAR
	RCV004030278	CLINVAR
dbSNP (RS)	rs201287148	CLINVAR
MedGen	C0950123	CLINVAR
	C3809853	CLINVAR
	C4551563	CLINVAR
NCBI Gene	TTI2	CLINVAR
OMIM	614426	CLINVAR
	615541	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)

Variant: RGD:38597014 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

Create Name:

Description:

Send us a Message

Variant: RGD:38597014 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar