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Phenotypic Abnormality (PA): Abnormal muscle physiology

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Root: HP Hierarchy (human phenotype with 3 sub-ontologies PA, MI, ON)

Shortest distance to current term (+ for parents, - for children) HP term [HP ID] <#Children> (#SF|#FA) #Supra-domain
(Single|Duplex|Triple)
+ + 2:   Phenotypic abnormality [HP:0000118] <25>
+ 1:   Abnormality of the musculature [HP:0003011] <3>(64|83) (70|33|9)
0:   Abnormal muscle physiology [HP:0011804] <12>(44|59) (51|22|5)
- 1:   Muscle weakness [HP:0001324] <22>(13|14) (15|4|0)
- 1:   EMG abnormality [HP:0003457] <10>(4|3) (4|2|0)
- 1:   Myotonia [HP:0002486] <10>(0|0) (0|0|0)
- 1:   Functional motor deficit [HP:0004302] <7>(1|5) (5|2|0)
- 1:   Muscle stiffness [HP:0003552] <5>(0|0) (0|0|0)
- 1:   Muscle abnormality related to mitochondrial dysfunction [HP:0003800] <4>(0|0) (0|0|0)
- 1:   Muscle spasm [HP:0003394] <4>(1|1) (1|0|0)
- 1:   Abnormal muscle tone [HP:0003808] <3>(23|37) (27|15|5)
- 1:   Increased muscle fatiguability [HP:0003750] <1>(0|0) (1|0|0)
- 1:   Gastroparesis [HP:0002578](0|0) (0|0|0)
- 1:   Muscle hyperirritability [HP:0003559](0|0) (0|0|0)
- 1:   Tetany [HP:0001281](0|0) (0|0|0)


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Superfamily

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SCOP termFDR (all)Annotation (direct or inherited)
Hect, E3 ligase catalytic domain0Direct
Putative DNA-binding domain0Direct
Rhodanese/Cell cycle control phosphatase0Direct
TK C-terminal domain-like0Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain0Direct
Folate-binding domain0Direct
Methylglyoxal synthase-like0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
SNARE fusion complex0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
ADC-like0Direct
Hook domain0Direct
Cytochrome b5-like heme/steroid binding domain0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
Thiamin diphosphate-binding fold (THDP-binding)0Direct
Aminomethyltransferase beta-barrel domain0Direct
Rudiment single hybrid motif0Direct
Pseudouridine synthase0Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
Smc hinge domain0Direct
4Fe-4S ferredoxins0Direct
NTF2-like0Direct
Ribonuclease PH domain 2-like0Direct
PP2C-like0Direct
S15/NS1 RNA-binding domain0Direct
CCCH zinc finger0Direct
Actin depolymerizing proteins0Direct
Nucleotidylyl transferase0.00005739Direct
Class II aaRS and biotin synthetases0.0005214Direct
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.003826Inherited
Single hybrid motif0.01193Inherited
Periplasmic binding protein-like I0.01725Inherited
Translation proteins0.07737Inherited
Voltage-gated potassium channels0.08155Inherited
Calcium-dependent phosphotriesterase0.1509Inherited
HSP20-like chaperones0.2133Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.2799Inherited
Nicotinic receptor ligand binding domain-like0.2799Inherited
MIR domain0.3472Inherited
RNA-binding domain, RBD0.3811Inherited
Tropomyosin0.5547Inherited
vWA-like0.8825Inherited
Troponin coil-coiled subunits0.9397Inherited
Intermediate filament protein, coiled coil region1Inherited


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Family

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SCOP termFDR (all)Annotation (direct or inherited)
CCCH zinc finger0Direct
a tRNA synthase domain0Direct
Amylase, catalytic domain0Direct
Myotubularin-like phosphatases0Direct
Ferredoxin domains from multidomain proteins0Direct
Protein serine/threonine phosphatase0Direct
BC N-terminal domain-like0Direct
N-acetyl transferase, NAT0Direct
Serum paraoxonase/arylesterase 1, PON10Direct
alpha-Amylases, C-terminal beta-sheet domain0Direct
Glycosyl transferases group 10Direct
Cytochrome b50Direct
SNARE fusion complex0Direct
Phosphate binding protein-like0Direct
beta-glycanases0Direct
Association domain of calcium/calmodulin-dependent protein kinase type II alpha subunit, CAMK2A0Direct
PP2C-like0Direct
Smc hinge domain0Direct
Branched-chain alpha-keto acid dehydrogenase Pyr module0Direct
Choline/Carnitine O-acyltransferase0Direct
Branched-chain alpha-keto acid dehydrogenase PP module0Direct
GABA-aminotransferase-like0Direct
Aminomethyltransferase beta-barrel domain0Direct
Hect, E3 ligase catalytic domain0Direct
Ribonuclease PH domain 1-like0Direct
Ubiquitin carboxyl-terminal hydrolase, UCH0Direct
Biotin dependent carboxylase carboxyltransferase domain0Direct
Exostosin0Direct
Histone lysine methyltransferases0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Inositol polyphosphate 5-phosphatase (IPP5)0Direct
Branched-chain alpha-keto acid dehydrogenase beta-subunit, C-terminal-domain0Direct
BC C-terminal domain-like0Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain0Direct
UBA domain0Direct
Ribonuclease PH domain 2-like0Direct
Anticodon-binding domain0Direct
Aminomethyltransferase folate-binding domain0Direct
IF2B-like0Direct
BC ATP-binding domain-like0Direct
Class I aminoacyl-tRNA synthetases (RS), catalytic domain0.00001613Direct
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.003644Inherited
Medium chain acyl-CoA dehydrogenase-like, C-terminal domain0.006796Inherited
Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains0.006796Inherited
Biotinyl/lipoyl-carrier proteins and domains0.006796Inherited
PHD domain0.02097Inherited
ValRS/IleRS/LeuRS editing domain0.03928Inherited
Elongation factors0.04339Inherited
Clathrin adaptor core protein0.06884Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.2214Inherited
Nicotinic receptor ligand binding domain-like0.2214Inherited
MIR domain0.2922Inherited
Canonical RBD0.4091Inherited
Extended AAA-ATPase domain0.4452Inherited
Myosin rod fragments0.4935Inherited
Tropomyosin0.4935Inherited
Integrin A (or I) domain0.8716Inherited
Laminin-type module0.9833Inherited
Intermediate filament protein, coiled coil region1Inherited


Plot distribution on phylogenetic tree for Superfamily and/or Family domains annotated by this phenotype term
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Supra-domain (including individual superfamily)

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Supra-domain (Single) FDR (all) Annotation (direct or inherited)
Hook domain0Direct
Acyl-CoA N-acyltransferases (Nat)0Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain0Direct
Smc hinge domain0Direct
TK C-terminal domain-like0Direct
Cytochrome b5-like heme/steroid binding domain0Direct
Pseudouridine synthase0Direct
S15/NS1 RNA-binding domain0Direct
Putative DNA-binding domain0Direct
PP2C-like0Direct
Rudiment single hybrid motif0Direct
Folate-binding domain0Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain0Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex0Direct
Hect, E3 ligase catalytic domain0Direct
SNARE fusion complex0Direct
Actin depolymerizing proteins0Direct
4Fe-4S ferredoxins0Direct
Ribonuclease PH domain 2-like0Direct
Aminomethyltransferase beta-barrel domain0Direct
Methylglyoxal synthase-like0Direct
Glycerol-3-phosphate (1)-acyltransferase0Direct
Thiamin diphosphate-binding fold (THDP-binding)0Direct
ADC-like0Direct
CCCH zinc finger0Direct
NTF2-like0Direct
Rhodanese/Cell cycle control phosphatase0Direct
Nucleotidylyl transferase0.00002583Direct
Class II aaRS and biotin synthetases0.0002636Direct
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases0.002263Inherited
Single hybrid motif0.007769Inherited
Periplasmic binding protein-like I0.01158Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase0.02937Inherited
ValRS/IleRS/LeuRS editing domain0.04231Inherited
Translation proteins0.05942Inherited
Voltage-gated potassium channels0.06297Inherited
Calcium-dependent phosphotriesterase0.1232Inherited
RING/U-box0.1326Inherited
HSP20-like chaperones0.1795Inherited
Nicotinic receptor ligand binding domain-like0.2414Inherited
Neurotransmitter-gated ion-channel transmembrane pore0.2414Inherited
MIR domain0.3055Inherited
RNA-binding domain, RBD0.3381Inherited
ARM repeat0.3418Inherited
Glucocorticoid receptor-like (DNA-binding domain)0.4781Inherited
Myosin rod fragments0.511Inherited
Tropomyosin0.511Inherited
vWA-like0.8525Inherited
POZ domain0.8885Inherited
Troponin coil-coiled subunits0.9133Inherited
Intermediate filament protein, coiled coil region0.9901Inherited

(show details)
Supra-domain (Duplex) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
50249,55681
  • 50249 - Nucleic acid-binding proteins
  • 55681 - Class II aaRS and biotin synthetases
  • 0Direct
    56059,51246
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 51246 - Rudiment single hybrid motif
  • 0Direct
    47005,52777
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 52777 - CoA-dependent acyltransferases
  • 0Direct
    103025,101790
  • 103025 - Folate-binding domain
  • 101790 - Aminomethyltransferase beta-barrel domain
  • 0Direct
    57903,57903
  • 57903 - FYVE/PHD zinc finger
  • 57903 - FYVE/PHD zinc finger
  • 0Direct
    50447,54980
  • 50447 - Translation proteins
  • 54980 - EF-G C-terminal domain-like
  • 0Direct
    50447,50465
  • 50447 - Translation proteins
  • 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain
  • 0Direct
    51230,47005
  • 51230 - Single hybrid motif
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 0Direct
    54211,55666
  • 54211 - Ribosomal protein S5 domain 2-like
  • 55666 - Ribonuclease PH domain 2-like
  • 0Direct
    52518,52518
  • 52518 - Thiamin diphosphate-binding fold (THDP-binding)
  • 52518 - Thiamin diphosphate-binding fold (THDP-binding)
  • 0Direct
    57850,57845
  • 57850 - RING/U-box
  • 57845 - B-box zinc-binding domain
  • 0Direct
    51905,55424
  • 51905 - FAD/NAD(P)-binding domain
  • 55424 - FAD/NAD-linked reductases, dimerisation (C-terminal) domain
  • 0Direct
    54928,90209
  • 54928 - RNA-binding domain, RBD
  • 90209 - Ran binding protein zinc finger-like
  • 0Direct
    53822,53850
  • 53822 - Periplasmic binding protein-like I
  • 53850 - Periplasmic binding protein-like II
  • 0Direct
    47060,55681
  • 47060 - S15/NS1 RNA-binding domain
  • 55681 - Class II aaRS and biotin synthetases
  • 0Direct
    52518,52922
  • 52518 - Thiamin diphosphate-binding fold (THDP-binding)
  • 52922 - TK C-terminal domain-like
  • 0Direct
    52777,52777
  • 52777 - CoA-dependent acyltransferases
  • 52777 - CoA-dependent acyltransferases
  • 0Direct
    50677,52374
  • 50677 - ValRS/IleRS/LeuRS editing domain
  • 52374 - Nucleotidylyl transferase
  • 0.04231Inherited
    52540,50447
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 50447 - Translation proteins
  • 0.04742Inherited
    63712,90112
  • 63712 - Nicotinic receptor ligand binding domain-like
  • 90112 - Neurotransmitter-gated ion-channel transmembrane pore
  • 0.2414Inherited
    53300,53300
  • 53300 - vWA-like
  • 53300 - vWA-like
  • 0.2706Inherited
    54928,54928
  • 54928 - RNA-binding domain, RBD
  • 54928 - RNA-binding domain, RBD
  • 0.4651Inherited

    (show details)
    Supra-domain (Triple) in N- to C-terminal order FDR (all) Annotation (direct or inherited)
    52540,50447,50465
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 50447 - Translation proteins
  • 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain
  • 0Direct
    52440,56059,51246
  • 52440 - PreATP-grasp domain
  • 56059 - Glutathione synthetase ATP-binding domain-like
  • 51246 - Rudiment single hybrid motif
  • 0Direct
    51230,47005,52777
  • 51230 - Single hybrid motif
  • 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex
  • 52777 - CoA-dependent acyltransferases
  • 0Direct
    49899,49899,57196
  • 49899 - Concanavalin A-like lectins/glucanases
  • 49899 - Concanavalin A-like lectins/glucanases
  • 57196 - EGF/Laminin
  • 0Direct
    52540,50447,54980
  • 52540 - P-loop containing nucleoside triphosphate hydrolases
  • 50447 - Translation proteins
  • 54980 - EF-G C-terminal domain-like
  • 0Direct


    Plot distribution on phylogenetic tree for Supra-domains (Single/Individual) annotated by this phenotype term
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