Results for the protein: Q15046

Results for the Protein: Q15046

20178333

3735

KARS

NCBI, UniProt

SYK_HUMAN RecName: Full=Lysine--tRNA ligase; AltName: Full=Lysyl-tRNA synthetase; Short=LysRS

Known Diseases associated with this Protein:
  CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B
  CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE, INTERMEDIATE TYPE, B (CMTRIB)
  DEAFNESS, AUTOSOMAL RECESSIVE 89
  DEAFNESS, AUTOSOMAL RECESSIVE, 89 (DFNB89)

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Tips:

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Default View: LysU - COG1190 AsnS - COG0017 AspS - COG0173 LysRS_N - cd04322 Asp_Lys_Asn_RS_N - cd04100 tRNA_anti - pfam01336 tRNA-synt_2 - pfam00152 AsxRS_core - cd00776 COG2269 - COG2269 LysRS_core - cd00775 Asp_Lys_Asn_RS_core - cd00669 AspRS_core - cd00777 class_II_aaRS-like_c - cd00768	Swiss-Prot Protein: Q15046 Identical to: NP_005539 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
AsnS	COG0017	4.5e-10	102	579
AspS	COG0173	7.5e-09	109	587
Asp_Lys_Asn_RS_N	cd04100	2.1e-21	125	208
LysRS_N	cd04322	3.2e-60	125	234
AsxRS_core	cd00776	7e-10	224	574
LysRS_core	cd00775	8.4e-254	237	575
Asp_Lys_Asn_RS_core	cd00669	1.2e-110	244	575
AspRS_core	cd00777	5.3e-06	244	575
class_II_aaRS-like_c	cd00768	9.5e-25	246	554
tRNA_anti	pfam01336	1.8e-15	126	206
tRNA-synt_2	pfam00152	1.7e-130	222	575
COG2269	COG2269	4e-29	229	575

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_070234	Disease	p.ASP349ASN	Deafness, autosomal recessive, 89 (DFNB89)
Swiss-Prot	VAR_052640	Polymorphism	p.GLY179ALA	N/A
Swiss-Prot	VAR_064912	Disease	p.ILE274MET	Charcot-Marie-Tooth disease, recessive, intermediate type, B (CMTRIB)
Swiss-Prot	VAR_064911	Disease	p.LEU105HIS	Charcot-Marie-Tooth disease, recessive, intermediate type, B (CMTRIB)
dbSNP	rs6834	Polymorphism	p.THR595SER	N/A
Swiss-Prot	VAR_070233	Disease	p.TYR145HIS	Deafness, autosomal recessive, 89 (DFNB89)
OMIM	601421.0004	Disease	p.ASP349ASN	DEAFNESS, AUTOSOMAL RECESSIVE 89
OMIM	601421.0001	Disease	p.LEU105HIS	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B
OMIM	601421.0003	Disease	p.TYR145HIS	DEAFNESS, AUTOSOMAL RECESSIVE 89

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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