PDB ID | 4FPA | CHAIN | A |
---|---|---|---|
Protein name | Hexokinase-1 | ||
Uniprot Accession | P19367 | ||
The number of similar proteins | 16 | ||
The number of binding states | 2 | ||
The number of binding partners | 1 |
Unicolor (beige)
The number of binding partners
Group
Only interaction residues |
|
||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
37_ILE | VAL |
8.3kJPN chr10:71103628 |
-
|
- | 0.0001 | - | |
37_ILE | THR |
8.3kJPN chr10:71103629 |
-
|
- | 0.0001 | - | |
42_ARG | HIS |
8.3kJPN chr10:71103644 |
rs953252520
|
- | 0.0001 | - | |
44_ARG | SER |
8.3kJPN chr10:71103651 |
-
|
- | 0.0002 | - | |
60_THR | ALA |
8.3kJPN chr10:71103697 |
-
|
- | 0.0001 | - | |
94_ARG | GLN |
ClinVar chr10:71119707 |
rs1176654400
|
Pathogenic/Likely pathogenic | - | not provided|Hemolytic anemia due to hexokinase deficiency [MedGen:C3661900|MONDO:MONDO:0009340,MedGen:C3150343,OMIM:235700,Orphanet:90031] | |
95_VAL | MET |
8.3kJPN chr10:71119709 |
rs1376894380
|
- | 0.0001 | - | |
135_GLY | TER |
8.3kJPN chr10:71124566 |
-
|
- | 0.0001 | - | |
136_ASP | ASN |
8.3kJPN chr10:71124569 |
-
|
- | 0.0001 | - | |
144_LYS | THR |
8.3kJPN chr10:71124594 |
-
|
- | 0.0001 | - | |
177_ALA | VAL |
gnomAD chr10:71128326 |
rs776236276
|
- | 0.000135202 | - | |
266_ASP | ASN |
ClinVar chr10:71129301 |
rs1322472709
|
Likely pathogenic | - | Neurodevelopmental disorder with visual defects and brain anomalies [MONDO:MONDO:0032807,MedGen:C5231404,OMIM:618547] | |
286_LEU | PRO |
8.3kJPN chr10:71129362 |
-
|
- | 0.0001 | - | |
331_ARG | TER |
ClinVar chr10:71136805 |
-
|
Pathogenic | - | Neurodevelopmental disorder with visual defects and brain anomalies|not provided [MONDO:MONDO:0032807,MedGen:C5231404,OMIM:618547|MedGen:C3661900] | |
358_ARG | CYS |
gnomAD chr10:71139658 |
rs147132442
|
- | 0.000103392 | - | |
369_VAL | ILE |
gnomAD chr10:71139691 |
rs143502069
|
- | 0.000334001 | - | |
377_ILE | VAL |
8.3kJPN chr10:71139715 |
rs754185312
|
- | 0.0001 | - | |
381_ARG | HIS |
8.3kJPN chr10:71139728 |
rs1490487177
|
- | 0.0001 | - | |
392_ALA | THR |
8.3kJPN chr10:71139760 |
rs140290094
|
- | 0.0001 | - | |
399_ASP | GLY |
8.3kJPN chr10:71139782 |
-
|
- | 0.0001 | - | |
405_ARG | LYS |
8.3kJPN chr10:71139800 |
-
|
- | 0.0001 | - | |
414_GLY | GLU | VAR_083222 |
rs1064795154
|
LP/P | - | Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) [MIM:618547] | |
414_GLY | GLU |
ClinVar chr10:71139827 |
rs1064795154
|
Likely pathogenic | - | not provided|Neurodevelopmental disorder with visual defects and brain anomalies [MedGen:CN517202|MONDO:MONDO:0032807,MedGen:C5231404,OMIM:618547] | |
414_GLY | ARG |
ClinVar chr10:71139826 |
rs2132871580
|
Likely pathogenic | - | not provided [MedGen:C3661900] | |
414_GLY | ARG |
ClinVar chr10:71139826 |
rs2132871580
|
Pathogenic/Likely pathogenic | - | Neurodevelopmental delay|not provided [Human Phenotype Ontology:HP:0012758,MedGen:C4022738|MedGen:C3661900] | |
418_LYS | GLU | VAR_083223 |
rs1564557037
|
LP/P | - | Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) [MIM:618547] | |
418_LYS | GLU |
ClinVar chr10:71139838 |
rs1564557037
|
Likely pathogenic | - | Neurodevelopmental disorder with visual defects and brain anomalies|Neurodevelopmental abnormality|Charcot-Marie-Tooth disease type 4G [MONDO:MONDO:0032807,MedGen:C5231404,OMIM:618547|Human Phenotype Ontology:HP:0012759,MedGen:C4022737|MONDO:MONDO:0011534,MedGen:C1854449,OMIM:605285,Orphanet:99953] | |
425_ARG | GLN |
8.3kJPN chr10:71142251 |
rs779828856
|
- | 0.0001 | - | |
441_ARG | CYS |
8.3kJPN chr10:71142298 |
rs148472311
|
- | 0.0001 | - | |
445_SER | LEU | VAR_083224 |
rs1064794848
|
LP/P | - | Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) [MIM:618547] | |
445_SER | LEU |
ClinVar chr10:71142311 |
rs1064794848
|
Pathogenic/Likely pathogenic | - | not provided|Neurodevelopmental disorder with visual defects and brain anomalies|Retinitis pigmentosa|Inborn genetic diseases|Hemolytic anemia due to hexokinase deficiency|Retinitis pigmentosa 79|Autism spectrum disorder [MedGen:C3661900|MONDO:MONDO:0032807,MedGen:C5231404,OMIM:618547|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000,Orphanet:791|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009340,MedGen:C3150343,OMIM:235700,Orphanet:90031|MONDO:MONDO:0044320,MedGen:C4479526,OMIM:617460|MONDO:MONDO:0005258,MeSH:D000067877,MedGen:C1510586,Orphanet:106] | |
452_GLY | ARG |
ClinVar chr10:71142331 |
rs2132884703
|
Likely pathogenic | - | Hemolytic anemia due to hexokinase deficiency [MONDO:MONDO:0009340,MedGen:C3150343,OMIM:235700,Orphanet:90031] | |
457_THR | MET | VAR_083225 |
rs1057517928
|
LP/P | - | Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) [MIM:618547] | |
457_THR | LYS |
ClinVar chr10:71142347 |
-
|
Likely pathogenic | - | Neurodevelopmental disorder with visual defects and brain anomalies [MONDO:MONDO:0032807,MedGen:C5231404,OMIM:618547] | |
468_ARG | TRP |
8.3kJPN chr10:71142379 |
rs747689299
|
- | 0.0001 | - | |
478_HIS | ARG |
gnomAD chr10:71142410 |
rs144282713
|
- | 0.000175426 | - | |
478_HIS | ARG |
8.3kJPN chr10:71142410 |
rs144282713
|
- | 0.0001 | - | |
503_THR | MET |
8.3kJPN chr10:71142485 |
rs755620381
|
- | 0.0001 | - | |
517_ARG | TRP |
gnomAD chr10:71142526 |
rs568551856
|
- | 0.000212717 | - | |
517_ARG | GLN |
8.3kJPN chr10:71142527 |
rs1202293213
|
- | 0.0001 | - | |
529_LEU | SER | VAR_009878 |
rs137853249
|
LP/P | - | Hexokinase deficiency (HK deficiency) [MIM:235700] | |
529_LEU | SER |
ClinVar chr10:71144104 |
rs137853249
|
Pathogenic | - | Hemolytic anemia due to hexokinase deficiency [MONDO:MONDO:0009340,MedGen:C3150343,OMIM:235700,Orphanet:90031] | |
546_ARG | HIS |
8.3kJPN chr10:71144155 |
rs548019222
|
- | 0.0001 | - | |
552_THR | MET |
8.3kJPN chr10:71144173 |
rs764684382
|
- | 0.0001 | - | |
609_THR | MET |
8.3kJPN chr10:71144658 |
rs769433330
|
- | 0.0001 | - | |
613_ALA | VAL |
8.3kJPN chr10:71144670 |
rs554507867
|
- | 0.0001 | - | |
617_ILE | VAL |
8.3kJPN chr10:71146088 |
rs760127339
|
- | 0.0002 | - | |
631_HIS | ASN |
8.3kJPN chr10:71146130 |
-
|
- | 0.0001 | - | |
640_ALA | VAL |
8.3kJPN chr10:71146158 |
-
|
- | 0.0001 | - | |
680_THR | SER | VAR_023780 |
rs398122379
|
LP/P | - | Hexokinase deficiency (HK deficiency) [MIM:235700] | |
680_THR | SER |
ClinVar chr10:71151884 |
rs398122379
|
Pathogenic | - | Hemolytic anemia due to hexokinase deficiency [MONDO:MONDO:0009340,MedGen:C3150343,OMIM:235700,Orphanet:90031] | |
743_LYS | ASN |
8.3kJPN chr10:71154715 |
-
|
- | 0.0001 | - | |
755_ARG | HIS |
8.3kJPN chr10:71154750 |
rs1158871029
|
- | 0.0001 | - | |
760_ASP | ASN |
8.3kJPN chr10:71154764 |
rs773954502
|
- | 0.0001 | - | |
776_LEU | MET | VAR_023781 |
rs1054203
|
LB/B | - | - | |
794_ARG | TER |
ClinVar chr10:71158355 |
rs2132973641
|
Pathogenic | - | not provided [MedGen:C3661900] | |
798_LEU | PHE |
8.3kJPN chr10:71158367 |
-
|
- | 0.0001 | - | |
831_ALA | THR |
8.3kJPN chr10:71158466 |
rs761196194
|
- | 0.0001 | - | |
847_GLU | LYS | VAR_078923 |
rs777849213
|
US | - | Retinitis pigmentosa 79 (RP79) [MIM:617460] | |
847_GLU | LYS |
ClinVar chr10:71158514 |
rs777849213
|
Pathogenic/Likely pathogenic | - | Retinitis pigmentosa 79|not provided|Retinal dystrophy|Retinal atrophy [MONDO:MONDO:0044320,MedGen:C4479526,OMIM:617460|MedGen:C3661900|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:D058499,MedGen:C0854723,Orphanet:71862|Human Phenotype Ontology:HP:0001105,MedGen:C0521694] | |
853_ARG | HIS |
8.3kJPN chr10:71158533 |
rs538768945
|
- | 0.0001 | - | |
889_SER | PRO |
8.3kJPN chr10:71160802 |
-
|
- | 0.0002 | - | |
905_THR | MET |
8.3kJPN chr10:71160851 |
rs748913554
|
- | 0.0001 | - |