Results for the protein: P41250

Results for the Protein: P41250

313104283

2617

GARS

NCBI, UniProt

SYG_HUMAN RecName: Full=Glycine--tRNA ligase; AltName: Full=Diadenosine tetraphosphate synthetase; Short=AP-4-A synthetase; AltName: Full=Glycyl-tRNA synthetase; Short=GlyRS

Known Diseases associated with this Protein:
  CHARCOT-MARIE-TOOTH DISEASE 2D (CMT2D)
  CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D
  NEURONOPATHY, DISTAL HEREDITARY MOTOR, 5A (HMN5A)
  NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
  NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V, INCLUDED

10

3

6

2

5

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: GlyRS_RNA - cd00935 HisRS_RNA - cd00938 WHEP-TRS - pfam00458 WHEPGMRS_RNA - cd01200 S15_NS1_EPRS_RNA-bin - cd00677 GRS1 - COG0423 GlyRS-like_core - cd00774 tRNA-synt_2b - pfam00587 class_II_aaRS-like_c - cd00768 Gly_His_Pro_Ser_Thr_ - cd00670 GlyRS_anticodon - cd00858 HGTP_anticodon - cd00738 HGTP_anticodon - pfam03129	Swiss-Prot Protein: P41250 Identical to: NP_002038 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
HisRS_RNA	cd00938	7.4e-05	65	109
S15_NS1_EPRS_RNA-bin	cd00677	4.6e-05	68	106
WHEPGMRS_RNA	cd01200	2.7e-14	68	109
GRS1	COG0423	8e-281	116	717
GlyRS-like_core	cd00774	1.4e-221	124	470
class_II_aaRS-like_c	cd00768	0.00035	235	584
Gly_His_Pro_Ser_Thr_	cd00670	0.00087	243	470
GlyRS_anticodon	cd00858	2.7e-71	588	711
HGTP_anticodon	cd00738	4.9e-09	613	707
WHEP-TRS	pfam00458	2.3e-15	67	122
tRNA-synt_2b	pfam00587	2.7e-124	157	453
HGTP_anticodon	pfam03129	1.4e-25	615	709

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs17159287	Polymorphism	p.ARG388GLN	N/A
Swiss-Prot	VAR_018718	Disease	p.GLU125GLY	Charcot-Marie-Tooth disease 2D (CMT2D)
Swiss-Prot	VAR_018720	Disease	p.GLY294ARG	Charcot-Marie-Tooth disease 2D (CMT2D)
Swiss-Prot	VAR_018721	Disease	p.GLY580ARG	Neuronopathy, distal hereditary motor, 5A (HMN5A)
Swiss-Prot	VAR_018719	Disease	p.LEU183PRO	Neuronopathy, distal hereditary motor, 5A (HMN5A)
dbSNP	rs1049402	Polymorphism	p.PRO42ALA	N/A
Swiss-Prot	VAR_054866	Polymorphism	p.THR268ILE	N/A
OMIM	600287.0005	Disease	p.ASP500ASN	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D\|\|NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V, INCLUDED
OMIM	600287.0003	Disease	p.GLU71GLY	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D\|\|NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V, INCLUDED
OMIM	600287.0001	Disease	p.GLY240ARG	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D
OMIM	600287.0004	Disease	p.GLY526ARG	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
OMIM	600287.0002	Disease	p.LEU129PRO	NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
OMIM	600287.0006	Disease	p.PRO244LEU	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D

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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