| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs149782619 |
C>G,T |
Pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
| rs373849532 |
G>T |
Pathogenic |
Missense variant, coding sequence variant, non coding transcript variant |
| rs397514489 |
A>G |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs397514490 |
C>A,G |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs397514491 |
T>C |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs397514492 |
G>A |
Pathogenic |
Non coding transcript variant, coding sequence variant, stop gained |
| rs397514493 |
C>T |
Pathogenic |
Non coding transcript variant, coding sequence variant, missense variant |
| rs762701283 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant, non coding transcript variant |
| rs1554088064 |
C>T |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs1561537267 |
T>C |
Likely-pathogenic |
Coding sequence variant, non coding transcript variant, missense variant |
| rs1580686455 |
A>G |
Likely-pathogenic |
Initiator codon variant, missense variant, non coding transcript variant |
|
|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
|
P49773 |
| Protein name |
Adenosine 5'-monophosphoramidase HINT1 (EC 3.9.1.-) (Desumoylating isopeptidase HINT1) (EC 3.4.22.-) (Histidine triad nucleotide-binding protein 1) (Protein kinase C inhibitor 1) (Protein kinase C-interacting protein 1) (PKCI-1) |
| Protein function |
Exhibits adenosine 5'-monophosphoramidase activity, hydrolyzing purine nucleotide phosphoramidates with a single phosphate group such as adenosine 5'monophosphoramidate (AMP-NH2) to yield AMP and NH2 (PubMed:15703176, PubMed:16835243, PubMed:172 |
| PDB |
1AV5
, 1KPA
, 1KPB
, 1KPC
, 1KPE
, 1KPF
, 3TW2
, 4EQE
, 4EQG
, 4EQH
, 4ZKL
, 4ZKV
, 5ED3
, 5ED6
, 5EMT
, 5I2E
, 5I2F
, 5IPB
, 5IPC
, 5IPD
, 5IPE
, 5KLY
, 5KLZ
, 5KM0
, 5KM1
, 5KM2
, 5KM3
, 5KM4
, 5KM6
, 5KMA
, 5KMB
, 5KMC
, 5O8I
, 5WA8
, 5WA9
, 5WAA
, 6B42
, 6G9Z
, 6J53
, 6J58
, 6J5S
, 6J5Z
, 6J64
, 6J65
, 6N3V
, 6N3W
, 6N3X
, 6N3Y
, 6YQM
, 7Q2U
, 8P8P
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF01230 |
HIT |
24 → 121 |
HIT domain |
Domain |
|
| Tissue specificity |
TISSUE SPECIFICITY: Widely expressed. |
| Sequence |
|
| Sequence length |
126 |
| Interactions |
View interactions |
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Autosomal recessive axonal neuropathy with neuromyotonia |
Pathogenic; Likely pathogenic |
rs2149654884, rs145306016, rs2149651165, rs2149654857, rs1289497047, rs397514493, rs2479570025, rs2479569695, rs149782619, rs397514489, rs397514490, rs373849532, rs397514491, rs397514492, rs1554088064, rs762701283, rs1580682390, rs1028404937, rs1561535921, rs1580686455 View all (5 more) |
RCV001353160 RCV001382703 RCV001807937 RCV002031398 RCV001960537 RCV002222120 RCV002616893 RCV003531782 RCV000030852 RCV000030853 RCV000030854 RCV000030855 RCV000030856 RCV000030857 RCV000030858 RCV000656698 RCV000656699 RCV001353157 RCV001215650 RCV000816232 RCV000799984 |
| Charcot-Marie-Tooth disease |
Pathogenic |
rs1580682390, rs1028404937 |
RCV000789326 RCV000789324 |
| Peripheral neuropathy |
Pathogenic; Likely pathogenic |
rs149782619, rs397514490 |
RCV001814014 RCV001814015 |
| Sensory axonal neuropathy |
Likely pathogenic |
rs1561537267 |
RCV000678468 |
|
|
|
| Disease Name |
Relationship Type |
References |
| Alcoholic Neuropathy |
Associate |
24105373, 34562060, 35501818, 39596683 |
| Alzheimer Disease |
Associate |
34225819 |
| Alzheimer Disease |
Inhibit |
36195955 |
| Anxiety |
Associate |
37373392, 38279213 |
| Autistic Disorder |
Associate |
36150388 |
| Carcinogenesis |
Associate |
15256063 |
| Carcinoma Hepatocellular |
Associate |
19081673, 19089909, 27623945, 35241097 |
| Carcinoma Non Small Cell Lung |
Associate |
15256063 |
| Charcot Marie Tooth Disease |
Associate |
25231362, 26556829, 35325986, 36242072, 39596683 |
| Charcot Marie Tooth disease Type 4E |
Associate |
36242072 |
| Colorectal Neoplasms |
Associate |
10555761 |
| Crohn Disease |
Inhibit |
38103512 |
| Diplopia |
Associate |
35501818 |
| Distal Hereditary Motor Neuropathy Type II |
Associate |
24105373, 36242072 |
| Giant Axonal Neuropathy |
Associate |
33663550, 35501818 |
| Hyperkinesis |
Associate |
39596683 |
| Inflammatory Bowel Diseases |
Associate |
38103512 |
| Intellectual Disability |
Associate |
39596683 |
| Isaacs Syndrome |
Associate |
24105373, 33663550, 34562060, 35501818, 36242072, 39596683 |
| Jensen syndrome |
Associate |
39596683 |
| Leukemia Myelogenous Chronic BCR ABL Positive |
Associate |
26460262 |
| Leukemia Myeloid Acute |
Associate |
30480765 |
| Muscle Cramp |
Associate |
33663550 |
| Muscle Neoplasms |
Associate |
33663550 |
| Muscular dystrophy congenital with central nervous system involvement |
Associate |
33663550 |
| Myasthenia Gravis |
Associate |
35501818 |
| Myokymia |
Associate |
39596683 |
| Neoplasms |
Inhibit |
15256063, 16835243, 19089909, 19112177, 27623945, 35241097 |
| Neoplasms |
Associate |
16835243, 19081673, 28768489 |
| Neoplastic Syndromes Hereditary |
Associate |
35501818 |
| Nervous System Diseases |
Inhibit |
30622225 |
| Nervous System Diseases |
Associate |
34562060 |
| Neuronopathy Distal Hereditary Motor Type V |
Associate |
24105373 |
| Peripheral Nervous System Diseases |
Associate |
33663550, 34562060, 35501818 |
| Personality Disorders |
Associate |
37373392 |
| Polyneuropathies |
Associate |
36242072 |
| Prostatic Neoplasms |
Associate |
24386364 |
| Ptosis Hereditary Congenital 2 |
Associate |
35501818 |
| Shoulder Fractures |
Associate |
33663550 |
|