RBCC Red Blood Cell Collection

MYH7_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: MYH7 , MYHCB
Protein names and data: MYH7_HUMAN , Myosin-7 , Myosin heavy chain 7; Myosin heavy chain slow isoform; MyHC-slow; Myosin heavy chain, cardiac muscle beta isoform; MyHC-beta Lenght: 1935 a.a.
Mass: 223097 Da
fasta formatted sequence
Function: Muscle contraction.
Disease: ( OMIM: 160500 160760 181430 192600 608358 613426 ) Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600]: 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. Myopathy, myosin storage (MYOMS) [MIM:608358]: A rare congenital myopathy characterized by subsarcolemmal hyalinized bodies in type 1 muscle fibers. Note=The disease is caused by mutations affecting the gene represented in this entry. Scapuloperoneal myopathy MYH7-related (SPMM) [MIM:181430]: Progressive muscular atrophia beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm. Note=The disease is caused by mutations affecting the gene represented in this entry. Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Note=The disease is caused by mutations affecting the gene represented in this entry. Myopathy, distal, 1 (MPD1) [MIM:160500]: A muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm, myofibril. Note=Thick filaments of the myofibrils.
Tissue specificity: Both wild type and variant Gln-403 are detected in skeletal muscle (at protein level).

Genetic variants

3 - 3 D -> A (in dbSNP:rs3729993). VAR_029430 3729993
26 - 26 A -> V (in CMH1; dbSNP:rs186964570). VAR_004566 186964570
39 - 39 V -> M (in CMH1). VAR_019845
59 - 59 V -> I (in CMH1). VAR_004567
107 - 107 D -> E (in dbSNP:rs2754166). VAR_017745 2754166
115 - 115 Y -> H (in CMH1). VAR_042762
124 - 124 T -> I (in CMH1). VAR_020797
143 - 143 R -> G (in CMH1). VAR_042763
143 - 143 R -> Q (in CMH1). VAR_004568
143 - 143 R -> W (in CMH1). VAR_029431
146 - 146 K -> N (in CMH1). VAR_042764
148 - 148 S -> I (in CMH1). VAR_042765
162 - 162 Y -> C (in CMH1). VAR_020798
186 - 186 V -> L (in CMH1). VAR_042766
187 - 187 N -> K (in CMH1). VAR_020799
188 - 188 T -> N (in CMH1). VAR_019846
190 - 190 R -> T (in CMH1). VAR_020800
196 - 196 A -> T (in CMH1). VAR_042767
201 - 201 I -> T (in CMD1S). VAR_042768
204 - 204 R -> H (in CMH1). VAR_019847
207 - 207 K -> Q (in CMH1). VAR_042769
211 - 211 P -> L (in CMH1). VAR_042770
222 - 222 Q -> K (in CMH1). VAR_020801
223 - 223 A -> T (in CMD1S). VAR_017746
227 - 227 L -> V (in CMH1). VAR_042771
232 - 232 N -> S (in CMH1). VAR_019848
244 - 244 F -> L (in CMH1). VAR_020802
249 - 249 R -> Q (in CMH1; dbSNP:rs3218713). VAR_004569 3218713
256 - 256 G -> E (in CMH1). VAR_004570
263 - 263 I -> M (in CMH1). VAR_042772
263 - 263 I -> T (in CMH1). VAR_004571
312 - 312 F -> C (in CMH1). VAR_042773
320 - 320 V -> M (in CMH1). VAR_020803
328 - 328 E -> G (in CMH1). VAR_042774
349 - 349 M -> T (in CMH1). VAR_004572
351 - 351 K -> E (in CMH1). VAR_042775
355 - 355 A -> T (in CMH1). VAR_019849
383 - 383 K -> N (in CMH1). VAR_042776
385 - 385 A -> V (in CMH1). VAR_042777
390 - 390 L -> V (in CMH1). VAR_020804
403 - 403 R -> L (in CMH1). VAR_004573
403 - 403 R -> Q (in CMH1). VAR_004574
403 - 403 R -> W (in CMH1; dbSNP:rs3218714). VAR_004575 3218714
404 - 404 V -> L (in CMH1). VAR_042778
404 - 404 V -> M (in CMH1). VAR_042779
406 - 406 V -> M (in CMH1). VAR_020805
407 - 407 G -> V (in CMH1). VAR_042780
411 - 411 V -> I (in CMH1). VAR_029432
412 - 412 T -> N (in CMD1S). VAR_042781
425 - 425 G -> R (in CMH1). VAR_042782
428 - 428 A -> V (in CMH1). VAR_019850
430 - 430 A -> E (in CMH1). VAR_029433
435 - 435 M -> T (in CMH1). VAR_042783
440 - 440 V -> M (in CMH1). VAR_042784
441 - 441 T -> M (in MPD1). VAR_042785
443 - 443 I -> T (in CMH1). VAR_019851
450 - 450 K -> E (in CMH1). VAR_042786
450 - 450 K -> T (in CMH1). VAR_042787
453 - 453 R -> C (in CMH1). VAR_004576
453 - 453 R -> H (in CMH1). VAR_042788
466 - 466 E -> Q (in dbSNP:rs4981473). VAR_029434 4981473
479 - 479 N -> S (in CMH1). VAR_019852
483 - 483 E -> K (in CMH1). VAR_019853
499 - 499 E -> K (in CMH1; dbSNP:rs3218715). VAR_020806 3218715
500 - 500 E -> A (in CMH1). VAR_042789
501 - 501 Y -> C (in CMH1). VAR_042790
511 - 511 I -> F (in CMH1). VAR_042791
511 - 511 I -> T (in CMH1). VAR_042792
513 - 513 F -> C (in CMH1). VAR_004577
515 - 515 M -> R (in CMH1). VAR_042793
515 - 515 M -> V (in CMH1; infrequent). VAR_039562
517 - 517 L -> M (in CMH1). VAR_029435
532 - 532 S -> P (in CMD1S). VAR_017747
550 - 550 A -> V (in CMD1S). VAR_042794
571 - 571 G -> R (in CMH1). VAR_042795
576 - 576 H -> R (in CMH1). VAR_042796
584 - 584 G -> R (in CMH1). VAR_004578
584 - 584 G -> S (in CMH1). VAR_029436
587 - 587 D -> V (in CMH1). VAR_004579
595 - 595 Q -> R (in CMH1). VAR_020807
601 - 601 L -> V (in CMH1). VAR_020808
602 - 602 N -> S (in CMH1). VAR_004580
606 - 606 V -> M (in CMH1; in cis with V-728 gives a more severe phenotype). VAR_004581
615 - 615 K -> N (in CMH1). VAR_004582
615 - 615 K -> Q (in CMH1). VAR_042797
642 - 642 S -> L (in CMD1S). VAR_017748
659 - 659 M -> I (in CMH1). VAR_019854
663 - 663 R -> C (in CMH1). VAR_042798
663 - 663 R -> H (in CMH1). VAR_019855
663 - 663 R -> S (in CMH1). VAR_019856
671 - 671 R -> C (in CMH1). VAR_019857
694 - 694 R -> C (in CMH1). VAR_020809
694 - 694 R -> H (in CMH1). VAR_029437
696 - 696 N -> S (in CMH1). VAR_020810
698 - 698 V -> A (in CMH1). VAR_042799
712 - 712 R -> L (in CMH1). VAR_020811
716 - 716 G -> R (in CMH1). VAR_004583
719 - 719 R -> Q (in CMH1). VAR_017749
719 - 719 R -> W (in CMH1). VAR_004584
723 - 723 R -> C (in CMH1). VAR_004585
723 - 723 R -> G (in CMH1; malignant phenotype). VAR_020812
728 - 728 A -> V (in CMH1; in cis with M-606 gives a more severe phenotype). VAR_017750
731 - 731 P -> L (in CMH1). VAR_004586
733 - 733 G -> E (in CMH1). VAR_019858
734 - 734 Q -> E (in CMH1). VAR_029438
734 - 734 Q -> P (in CMH1). VAR_042800
736 - 736 I -> M (in CMH1). VAR_004587
736 - 736 I -> T (in CMH1). VAR_029439
741 - 741 G -> R (in CMH1). VAR_004588
741 - 741 G -> W (in CMH1). VAR_004589
742 - 742 A -> E (in CMH1). VAR_042801
743 - 743 E -> D (in CMH1). VAR_014199
763 - 763 V -> G (in CMH1). VAR_042802
763 - 763 V -> M (in CMH1). VAR_045926
764 - 764 F -> L (in CMD1S). VAR_017751
768 - 768 G -> R (in CMH1). VAR_019859
774 - 774 E -> V (in CMH1). VAR_042803
778 - 778 D -> E (in CMH1). VAR_019860
778 - 778 D -> G (in CMH1). VAR_004590
778 - 778 D -> V (in CMH1). VAR_042804
782 - 782 S -> N (in CMH1). VAR_020813
787 - 787 R -> C (in CMH1). VAR_045927
787 - 787 R -> H (in CMH1). VAR_019861
796 - 796 L -> F (in CMH1). VAR_029440
797 - 797 A -> T (in CMH1; dbSNP:rs3218716). VAR_004591 3218716
822 - 822 M -> L (in CMH1). VAR_042805
822 - 822 M -> T (in CMH1). VAR_042806
823 - 823 G -> E (in CMH1). VAR_042807
824 - 824 V -> I (in CMH1). VAR_029441
846 - 846 E -> Q (in CMH1). VAR_020814
847 - 847 Missing (in CMH1). VAR_042808
852 - 852 M -> T (in CMH1). VAR_019862
858 - 858 R -> C (in CMH1; infrequent). VAR_039563
858 - 858 R -> H (in CMH1; dbSNP:rs2856897). VAR_042809 2856897
869 - 869 R -> C (in CMH1). VAR_020815
869 - 869 R -> G (in CMH1). VAR_019863
869 - 869 R -> H (in CMH1; dbSNP:rs202141173). VAR_042810 202141173
870 - 870 R -> C (in CMH1; dbSNP:rs36211715). VAR_020816 36211715
870 - 870 R -> H (in CMH1; dbSNP:rs36211715). VAR_004592 36211715
877 - 877 M -> K (in CMH1). VAR_020817
882 - 882 Q -> E (in CMH1). VAR_042811
883 - 883 Missing (in CMH1). VAR_019864
894 - 894 E -> G (in CMH1). VAR_042812
901 - 901 A -> G (in CMH1). VAR_042813
905 - 905 C -> F (in CMH1). VAR_029442
906 - 906 D -> G (in CMH1). VAR_042814
908 - 908 L -> V (in CMH1). VAR_004593
921 - 921 E -> K (in CMH1). VAR_042815
924 - 924 E -> K (in CMH1). VAR_004594
924 - 924 E -> Q (in CMH1). VAR_029443
927 - 927 E -> K (in CMH1). VAR_042816
927 - 927 Missing (in CMH1). VAR_020818
928 - 928 D -> N (in CMH1). VAR_029444
930 - 930 E -> K (in CMH1). VAR_004595
930 - 930 Missing (in CMH1). VAR_004596
931 - 931 E -> K (in CMH1). VAR_042817
935 - 935 E -> K (in CMH1). VAR_004597
949 - 949 E -> K (in CMH1). VAR_004598
953 - 953 D -> H (in CMH1). VAR_042818
1019 - 1019 T -> N (in CMD1S). VAR_042819
1044 - 1044 V -> A (in CMD1S). VAR_067260
1057 - 1057 G -> D (in CMH1). VAR_042820
1057 - 1057 G -> S (in CMH1). VAR_042821
1101 - 1104 Missing (in CMD1S). VAR_067261
1124 - 1124 A -> S (in dbSNP:rs1041961). VAR_017753 1041961
1135 - 1135 L -> R (in CMH1). VAR_019865
1193 - 1193 R -> S (in CMD1S). VAR_042822
1218 - 1218 E -> Q (in CMH1). VAR_019866
1263 - 1263 A -> E (in CMD1S). VAR_067262
1297 - 1297 L -> V (in CMD1S). VAR_067263
1327 - 1327 N -> K (in CMH1). VAR_042823
1356 - 1356 E -> K (in CMH1). VAR_042824
1377 - 1377 T -> M (in CMH1). VAR_019867
1379 - 1379 A -> T (in CMH1). VAR_019868
1382 - 1382 R -> W (in CMH1). VAR_019869
1414 - 1414 L -> M (in CMH1). VAR_045928
1420 - 1420 R -> W (in CMH1). VAR_042825
1426 - 1426 E -> K (in CMD1S). VAR_042826
1454 - 1454 A -> T (in CMH1). VAR_042827
1459 - 1459 K -> N (in CMH1). VAR_042828
1475 - 1475 R -> C. VAR_042829
1491 - 1491 S -> C (in dbSNP:rs3729823). VAR_020819 3729823
1500 - 1500 R -> P (in MPD1). VAR_022369
1513 - 1513 T -> S (in CMH1). VAR_042830
1519 - 1519 S -> C. VAR_042831
1555 - 1555 E -> K (in CMH1). VAR_020820
1617 - 1617 Missing (in MPD1). VAR_042832
1634 - 1634 R -> C (in CMD1S). VAR_042833
1663 - 1663 A -> P (in MPD1). VAR_022370
1692 - 1692 V -> M (probable polymorphism; has been originally reported as a hypertrophic cardiomyopathy mutation). VAR_019870
1706 - 1706 L -> P (in MPD1). VAR_022371
1712 - 1712 R -> W (in CMH1). VAR_042834
1729 - 1729 Missing (in MPD1). VAR_042835
1753 - 1753 E -> K (in CMH1). VAR_042836
1768 - 1768 E -> K (in CMH1). VAR_042837
1776 - 1776 S -> G (in CMH1). VAR_020821
1777 - 1777 A -> T (in CMH1). VAR_019871
1845 - 1845 R -> W (in MYOMS and SPMM; dbSNP:rs28933098). VAR_017754 28933098
1854 - 1854 T -> M (in CMH1). VAR_042838
1883 - 1883 E -> K (in CMH1). VAR_042839
1901 - 1901 H -> L (in MYOMS). VAR_042840
1919 - 1919 K -> N. VAR_042841
1929 - 1929 T -> M (in CMH1). VAR_042842

Database cross-references

UniProt: P12883
Ensembl: ENST00000355349
MIM: 160500
MIM: 160760
MIM: 181430
MIM: 192600
MIM: 608358
MIM: 613426
neXtProt: NX_P12883
Antibodypedia: P12883 (may not find the protein thus also not any antibody)
Local full text data: click here

Users' comments

Login to add a comment.

© Hegelab and Biomembrane 2013; Powered by TurboGears 2