PDB ID 1M3E     CHAIN A
Protein name SUCCINYL-COA:3-KETOACID-COENZYME A TRANSFERASE
Uniprot Accession Q29551
The number of similar proteins 18
The number of binding states 1
The number of binding partners 1

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
1M3E (CHAIN: A)
1 Q29551  

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Only interaction residues
#binding
partners
  1
  0

Sequence information

1   TKFYTDAVEA   VKDIPNGATV   LVGGFGLCGI   PENLIGALLK   TGVKELTAVS   50
51   NNAGVDNFGL   GLLLQSKQIK   RXISSYVGEN   AEFERQYLAG   ELEVELTPQG   100
101   TLAERIRAGG   AGVPAFYTST   GYGTLVQEGG   SPIKYNKDGS   IAIASKPREV   150
151   REFNGQHFIL   EEAIRGDFAL   VKAWKADQAG   NVTFRKSARN   FNLPXCKAAE   200
201   TTVVEVEEIV   DIGSFAPEDI   HIPKIYVHRL   VKGEKYEKRI   ERLSVRKEED   250
251   VKTRSGKLGD   NVRERIIKRA   ALEFEDGXYA   NLGIGIPLLA   SNFISPNXTV   300
301   HLQSENGILG   LGPYPLQNEV   DADLINAGKE   TVTVLPGASY   FSSDESFAXI   350
351   RGGHVNLTXL   GAXQVSKYGD   LANWXIPGKL   VKGXGGAXDL   VSSAKTKVVV   400
401   TXEHSAKGNA   HKIXEKCTLP   LTGKQCVNRI   ITEKAVFDVD   RKKGLTLIEL   450
451   WEGLTVDDIK   KSTGCDFAVS   PKLIPXQQVT   T     500

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
6_ASP HIS 8.3kJPN
chr5:41862798 		rs199713007
- 0.0002 -
17_GLY ASP 8.3kJPN
chr5:41862764 		-
- 0.0001 -
19_THR MET gnomAD
chr5:41862758 		rs75134564
- 0.0013207 -
19_THR MET 8.3kJPN
chr5:41862758 		rs75134564
- 0.0048 -
23_GLY VAL 8.3kJPN
chr5:41862746 		-
- 0.0001 -
26_GLY ARG ClinVar
chr5:41861501 		rs1579903197
Likely pathogenic - Succinyl-CoA acetoacetate transferase deficiency [MONDO:MONDO:0009492,MedGen:C0342792,OMIM:245050,Orphanet:832]
55_VAL ALA 8.3kJPN
chr5:41853654 		-
- 0.0001 -
85_ARG TER ClinVar
chr5:41853565 		rs1579884900
Likely pathogenic - Succinyl-CoA acetoacetate transferase deficiency [MONDO:MONDO:0009492,MedGen:C0342792,OMIM:245050,Orphanet:832]
103_ALA PRO ClinVar
chr5:41850272 		rs1561128268
Likely pathogenic - Succinyl-CoA acetoacetate transferase deficiency [MONDO:MONDO:0009492,MedGen:C0342792,OMIM:245050,Orphanet:832]
178_ARG TER ClinVar
chr5:41842799 		rs758813974
Pathogenic - Succinyl-CoA acetoacetate transferase deficiency [MONDO:MONDO:0009492,MedGen:C0342792,OMIM:245050,Orphanet:832]
178_ARG LEU gnomAD
chr5:41842798 		rs142383658
- 0.000776645 -
180_GLY GLU ClinVar
chr5:41842792 		rs121909302
Pathogenic - Succinyl-CoA acetoacetate transferase deficiency [MONDO:MONDO:0009492,MedGen:C0342792,OMIM:245050,Orphanet:832]
229_ARG HIS ClinVar
chr5:41807470 		rs2112279054
Pathogenic - Succinyl-CoA acetoacetate transferase deficiency [MONDO:MONDO:0009492,MedGen:C0342792,OMIM:245050,Orphanet:832]
242_ARG CYS 8.3kJPN
chr5:41805783 		rs1014048269
- 0.0002 -
244_SER TER ClinVar
chr5:41805776 		rs121909299
Pathogenic - Succinyl-CoA acetoacetate transferase deficiency [MONDO:MONDO:0009492,MedGen:C0342792,OMIM:245050,Orphanet:832]
246_ARG TRP 8.3kJPN
chr5:41805771 		rs750604881
- 0.0001 -
271_ALA THR 8.3kJPN
chr5:41805696 		rs748055831
- 0.0007 -
285_GLY GLU ClinVar
chr5:41803250 		rs121909301
Pathogenic - Succinyl-CoA acetoacetate transferase deficiency|not provided [MONDO:MONDO:0009492,MedGen:C0342792,OMIM:245050,Orphanet:832|MedGen:C3661900]
310_GLY CYS 8.3kJPN
chr5:41803176 		rs1265872256
- 0.0001 -
356_ASP ASN gnomAD
chr5:41794170 		rs544345952
- 0.000676052 -
356_ASP ASN 8.3kJPN
chr5:41794170 		rs544345952
- 0.0001 -
396_THR ASN 8.3kJPN
chr5:41762247 		-
- 0.0001 -
414_MET THR 8.3kJPN
chr5:41749690 		rs755255464
- 0.0002 -
414_MET LEU 8.3kJPN
chr5:41749691 		-
- 0.0001 -
415_GLU TER 8.3kJPN
chr5:41749688 		-
- 0.0001 -
417_CYS PHE ClinVar
chr5:41749681 		rs121909300
Pathogenic - Succinyl-CoA acetoacetate transferase deficiency [MONDO:MONDO:0009492,MedGen:C0342792,OMIM:245050,Orphanet:832]
418_THR ILE ClinVar
chr5:41749678 		rs369643387
Pathogenic - Succinyl-CoA acetoacetate transferase deficiency [MONDO:MONDO:0009492,MedGen:C0342792,OMIM:245050,Orphanet:832]
418_THR ALA 8.3kJPN
chr5:41749679 		-
- 0.0001 -
429_ARG CYS ClinVar
chr5:41749646 		rs1327401976
Likely pathogenic - Succinyl-CoA acetoacetate transferase deficiency|not provided [MONDO:MONDO:0009492,MedGen:C0342792,OMIM:245050,Orphanet:832|MedGen:C3661900]
453_GLY ASP gnomAD
chr5:41739538 		rs758232097
- 0.000178953 -
468_ALA VAL 8.3kJPN
chr5:41739493 		rs745896456
- 0.0002 -
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.