Results for the protein: P14868

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Database Statistics

Results for the Protein: P14868

20178330

1615

DARS

NCBI, UniProt

SYDC_HUMAN RecName: Full=Aspartate--tRNA ligase, cytoplasmic; AltName: Full=Aspartyl-tRNA synthetase; Short=AspRS; AltName: Full=Cell proliferation-inducing gene 40 protein

Known Diseases associated with this Protein:
  HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG
  HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY (HBSL)
  SPASTICITY

14

1

6

0

9

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: LysU - COG1190 AsnS - COG0017 AspS - COG0173 EcAspRS_like_N - cd04317 AsnRS_cyto_like_N - cd04323 AspRS_cyto_N - cd04320 Asp_Lys_Asn_RS_N - cd04100 tRNA_anti - pfam01336 ND_PkAspRS_like_N - cd04316 AsxRS_core - cd00776 tRNA-synt_2 - pfam00152 COG2269 - COG2269 LysRS_core - cd00775 AspRS_core - cd00777 Asp_Lys_Asn_RS_core - cd00669 class_II_aaRS-like_c - cd00768	Swiss-Prot Protein: P14868 Identical to: NP_001340 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
AsnS	COG0017	2e-178	43	501
AspS	COG0173	2.5e-12	48	501
EcAspRS_like_N	cd04317	1.5e-06	50	192
Asp_Lys_Asn_RS_N	cd04100	1.8e-17	59	147
AspRS_cyto_N	cd04320	4.4e-62	59	158
AsnRS_cyto_like_N	cd04323	0.00014	59	147
ND_PkAspRS_like_N	cd04316	7.5e-05	62	159
AsxRS_core	cd00776	6.7e-198	173	497
LysRS_core	cd00775	5.7e-08	189	496
Asp_Lys_Asn_RS_core	cd00669	4.3e-43	196	497
AspRS_core	cd00777	2.1e-10	196	497
class_II_aaRS-like_c	cd00768	1.9e-08	198	476
tRNA_anti	pfam01336	1.5e-10	60	145
tRNA-synt_2	pfam00152	7.8e-89	175	497
COG2269	COG2269	0.00022	179	497

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_070039	Disease	p.ALA274VAL	Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL)
Swiss-Prot	VAR_070043	Disease	p.ARG487CYS	Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL)
Swiss-Prot	VAR_070044	Disease	p.ARG494CYS	Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL)
Swiss-Prot	VAR_070045	Disease	p.ARG494GLY	Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL)
Swiss-Prot	VAR_070041	Disease	p.ARG460HIS	Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL)
Swiss-Prot	VAR_070040	Disease	p.ASP367TYR	Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL)
Swiss-Prot	VAR_027611	Polymorphism	p.LEU426PHE	N/A
Swiss-Prot	VAR_070038	Disease	p.MET256LEU	Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL)
Swiss-Prot	VAR_070042	Disease	p.PRO464LEU	Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL)
OMIM	603084.0002	Disease	p.ALA274VAL	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG\|\|SPASTICITY
OMIM	603084.0004	Disease	p.ARG487CYS	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG\|\|SPASTICITY
OMIM	603084.0006	Disease	p.ARG494GLY	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG\|\|SPASTICITY
OMIM	603084.0005	Disease	p.ARG460HIS	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG\|\|SPASTICITY
OMIM	603084.0001	Disease	p.ASP367TYR	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG\|\|SPASTICITY
OMIM	603084.0003	Disease	p.MET256LEU	HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG\|\|SPASTICITY

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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