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Results for the Protein: P41250
313104283

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
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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 ↕
GlyRS_RNAcd009351.1e-2864114
HisRS_RNAcd009387.4e-0565109
S15_NS1_EPRS_RNA-bincd006774.6e-0568106
WHEPGMRS_RNAcd012002.7e-1468109
GRS1COG04238e-281116717
GlyRS-like_corecd007741.4e-221124470
class_II_aaRS-like_ccd007680.00035235584
Gly_His_Pro_Ser_Thr_cd006700.00087243470
GlyRS_anticodoncd008582.7e-71588711
HGTP_anticodoncd007384.9e-09613707
WHEP-TRSpfam004582.3e-1567122
tRNA-synt_2bpfam005872.7e-124157453
HGTP_anticodonpfam031291.4e-25615709

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs17159287 Polymorphismp.ARG388GLNN/A
Swiss-ProtVAR_018718Diseasep.GLU125GLYCharcot-Marie-Tooth disease 2D (CMT2D)
Swiss-ProtVAR_018720Diseasep.GLY294ARGCharcot-Marie-Tooth disease 2D (CMT2D)
Swiss-ProtVAR_018721Diseasep.GLY580ARGNeuronopathy, distal hereditary motor, 5A (HMN5A)
Swiss-ProtVAR_018719Diseasep.LEU183PRONeuronopathy, distal hereditary motor, 5A (HMN5A)
dbSNPrs1049402 Polymorphismp.PRO42ALAN/A
Swiss-ProtVAR_054866Polymorphismp.THR268ILEN/A
OMIM600287.0005 Diseasep.ASP500ASNCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V, INCLUDED
OMIM600287.0003 Diseasep.GLU71GLYCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D||NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V, INCLUDED
OMIM600287.0001 Diseasep.GLY240ARGCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D
OMIM600287.0004 Diseasep.GLY526ARGNEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
OMIM600287.0002 Diseasep.LEU129PRONEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
OMIM600287.0006 Diseasep.PRO244LEUCHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D



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