MYPC3_HUMAN
Source:
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
MYBPC3
Protein names and data:
MYPC3_HUMAN
, Myosin-binding protein C, cardiac-type; Cardiac MyBP-C
, C-protein, cardiac muscle isoform
Lenght: 1274 a.a.
Mass: 140762 Da
fasta formatted sequence
Function:
Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role.
Disease:
( OMIM:
115197
600958
)
Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genetic variants
5 - 5
G -> R (in CMH4). VAR_029390
59 - 59
T -> A (in CMH4). VAR_029391
158 - 158
V -> M (in dbSNP:rs3729986). VAR_020085
3729986
161 - 161
P -> S (in CMH4). VAR_029392
189 - 189
V -> I (in dbSNP:rs11570052). VAR_020568
11570052
219 - 219
V -> L (in CMH4). VAR_029393
228 - 228
D -> N (in CMH4). VAR_029394
236 - 236
S -> G (in dbSNP:rs3729989). VAR_020086
3729989
237 - 237
Y -> S (in CMH4). VAR_029395
256 - 256
V -> I (in CMH4). VAR_029396
257 - 257
H -> P (in CMH4). VAR_019889
258 - 258
E -> K (in CMH4). VAR_019890
263 - 263
G -> R (in CMH4). VAR_042740
273 - 273
R -> H (in CMH4). VAR_042741
278 - 278
G -> E (in CMH4; dbSNP:rs147315081). VAR_019891
147315081
279 - 279
G -> A (in CMH4). VAR_019892
281 - 281
R -> Q (in dbSNP:rs11570060). VAR_020569
11570060
282 - 282
R -> W (in CMH4). VAR_029397
326 - 326
R -> Q (in dbSNP:rs34580776). VAR_019893
34580776
352 - 352
L -> P (in CMH4). VAR_019894
382 - 382
R -> W (in dbSNP:rs11570076). VAR_020570
11570076
383 - 383
L -> V (in dbSNP:rs11570077). VAR_020571
11570077
416 - 416
G -> S. VAR_029398
417 - 417
A -> S (in CMH4). VAR_042742
451 - 451
E -> Q (in CMH4). VAR_027879
458 - 458
R -> H (in CMH4). VAR_029399
490 - 490
G -> R (in CMH4). VAR_029400
495 - 495
R -> G (in CMH4). VAR_045929
495 - 495
R -> Q (in CMH4). VAR_027880
502 - 502
R -> Q (in CMH4). VAR_027881
502 - 502
R -> W (in CMH4). VAR_019895
504 - 504
Missing (in CMH4). VAR_019896
507 - 507
G -> R (in CMH4; dbSNP:rs35736435). VAR_029401
35736435
522 - 522
A -> T (in dbSNP:rs11570082). VAR_020573
11570082
523 - 523
G -> W (in CMH4). VAR_029402
542 - 542
E -> Q (in CMH4). VAR_003917
545 - 545
L -> M. VAR_029403
566 - 566
C -> R (in CMH4). VAR_029404
604 - 604
D -> V (in CMH4). VAR_029405
605 - 605
D -> N (in CMH4; pathogenicity remains to be determined). VAR_029406
608 - 608
P -> L (in CMH4). VAR_029407
654 - 654
R -> H (in CMH4; as well folded and stable as the wild-type; dbSNP:rs1800565). VAR_003918
1800565
668 - 668
R -> H (in CMH4). VAR_029408
668 - 668
R -> P (in CMH4). VAR_029409
669 - 669
L -> H (in CMH4). VAR_042743
733 - 733
R -> C (in CMH4). VAR_029410
755 - 755
N -> K (in CMH4; destabilizes the structure of Ig-like C2-type domain 5). VAR_003919
759 - 759
E -> D (in CMH4). VAR_042744
770 - 770
D -> N (in CMH4; dbSNP:rs36211723). VAR_029411
36211723
792 - 792
W -> R (in CMH4). VAR_029412
810 - 810
R -> H (in CMH4). VAR_029413
811 - 811
K -> R (in CMH4). VAR_019897
811 - 811
Missing (in CMH4). VAR_029414
813 - 813
Missing (in CMH4). VAR_029415
820 - 820
R -> Q (in CMH4; dbSNP:rs2856655). VAR_029416
2856655
833 - 833
A -> T (in CMH4; pathogenicity is uncertain). VAR_029417
833 - 833
A -> V (in CMH4; dbSNP:rs3729952). VAR_019898
3729952
834 - 834
R -> T (in CMH4). VAR_029418
834 - 834
R -> W (in CMH4; pathogenicity is uncertain). VAR_029419
873 - 873
P -> H (in CMH4). VAR_029420
896 - 896
V -> M (may act as a phenotype modifier in cardiomyopathy patients; dbSNP:rs35078470). VAR_019899
35078470
948 - 948
N -> T (in CMH4). VAR_029421
998 - 998
Q -> E (in CMH4; dbNP:11570112; dbSNP:rs11570112). VAR_020574
11570112
998 - 998
Q -> R (in CMH4). VAR_029422
1002 - 1002
R -> Q (in CMH4). VAR_029423
1002 - 1002
R -> W (in dbSNP:rs3729799). VAR_029424
3729799
1003 - 1003
P -> Q (in CMH4). VAR_029425
1028 - 1028
T -> S (in CMH4). VAR_045930
1048 - 1048
R -> C (in dbSNP:rs11570113). VAR_020575
11570113
1113 - 1113
F -> I (in CMH4). VAR_029426
1115 - 1115
V -> I (in CMH4). VAR_029427
1131 - 1131
I -> T (in CMH4; pathogenicity is uncertain). VAR_029428
1155 - 1155
Missing (in CMH4). VAR_029429
1194 - 1194
A -> T (in CMH4). VAR_019900
1248 - 1248
G -> R (in CMH4). VAR_045931
1255 - 1255
A -> T (in CMH4). VAR_019901
Database cross-references
UniProt:
Q14896
Ensembl:
ENST00000256993
Ensembl:
ENST00000545968
MIM:
115197
MIM:
600958
neXtProt:
NX_Q14896
Antibodypedia:
Q14896
(may not find the protein thus also not any antibody)
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