Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31768 | 95527;95528;95529 | chr2:178545934;178545933;178545932 | chr2:179410661;179410660;179410659 |
| N2AB | 30127 | 90604;90605;90606 | chr2:178545934;178545933;178545932 | chr2:179410661;179410660;179410659 |
| N2A | 29200 | 87823;87824;87825 | chr2:178545934;178545933;178545932 | chr2:179410661;179410660;179410659 |
| N2B | 22703 | 68332;68333;68334 | chr2:178545934;178545933;178545932 | chr2:179410661;179410660;179410659 |
| Novex-1 | 22828 | 68707;68708;68709 | chr2:178545934;178545933;178545932 | chr2:179410661;179410660;179410659 |
| Novex-2 | 22895 | 68908;68909;68910 | chr2:178545934;178545933;178545932 | chr2:179410661;179410660;179410659 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/F | None | None | 0.995 | N | 0.687 | 0.321 | 0.745290931308 | gnomAD-4.0.0 | 1.36839E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79892E-06 | 0 | 0 |
| V/L | rs1696890603  |
None | 0.78 | N | 0.522 | 0.19 | 0.330331372229 | gnomAD-4.0.0 | 1.36839E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79892E-06 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.207 | likely_benign | 0.2407 | benign | -1.003 | Destabilizing | 0.78 | D | 0.514 | neutral | N | 0.508725955 | None | None | N |
| V/C | 0.7378 | likely_pathogenic | 0.7943 | pathogenic | -0.773 | Destabilizing | 0.999 | D | 0.667 | neutral | None | None | None | None | N |
| V/D | 0.5213 | ambiguous | 0.6444 | pathogenic | -0.421 | Destabilizing | 0.938 | D | 0.707 | prob.neutral | N | 0.468975701 | None | None | N |
| V/E | 0.4282 | ambiguous | 0.5362 | ambiguous | -0.439 | Destabilizing | 0.976 | D | 0.657 | neutral | None | None | None | None | N |
| V/F | 0.3297 | likely_benign | 0.3609 | ambiguous | -0.751 | Destabilizing | 0.995 | D | 0.687 | prob.neutral | N | 0.478485582 | None | None | N |
| V/G | 0.2996 | likely_benign | 0.3722 | ambiguous | -1.28 | Destabilizing | 0.811 | D | 0.673 | neutral | N | 0.481852944 | None | None | N |
| V/H | 0.6282 | likely_pathogenic | 0.7053 | pathogenic | -0.715 | Destabilizing | 0.997 | D | 0.775 | deleterious | None | None | None | None | N |
| V/I | 0.0859 | likely_benign | 0.0844 | benign | -0.371 | Destabilizing | 0.896 | D | 0.51 | neutral | N | 0.511611545 | None | None | N |
| V/K | 0.518 | ambiguous | 0.5905 | pathogenic | -0.798 | Destabilizing | 0.976 | D | 0.659 | neutral | None | None | None | None | N |
| V/L | 0.3038 | likely_benign | 0.3373 | benign | -0.371 | Destabilizing | 0.78 | D | 0.522 | neutral | N | 0.4843103 | None | None | N |
| V/M | 0.1895 | likely_benign | 0.2007 | benign | -0.391 | Destabilizing | 0.996 | D | 0.54 | neutral | None | None | None | None | N |
| V/N | 0.2486 | likely_benign | 0.3369 | benign | -0.617 | Destabilizing | 0.076 | N | 0.48 | neutral | None | None | None | None | N |
| V/P | 0.5787 | likely_pathogenic | 0.6376 | pathogenic | -0.545 | Destabilizing | 0.996 | D | 0.736 | prob.delet. | None | None | None | None | N |
| V/Q | 0.4068 | ambiguous | 0.4724 | ambiguous | -0.747 | Destabilizing | 0.988 | D | 0.741 | deleterious | None | None | None | None | N |
| V/R | 0.4911 | ambiguous | 0.5888 | pathogenic | -0.334 | Destabilizing | 0.976 | D | 0.769 | deleterious | None | None | None | None | N |
| V/S | 0.2158 | likely_benign | 0.2765 | benign | -1.152 | Destabilizing | 0.851 | D | 0.615 | neutral | None | None | None | None | N |
| V/T | 0.1396 | likely_benign | 0.1593 | benign | -1.05 | Destabilizing | 0.132 | N | 0.303 | neutral | None | None | None | None | N |
| V/W | 0.8921 | likely_pathogenic | 0.93 | pathogenic | -0.896 | Destabilizing | 0.999 | D | 0.757 | deleterious | None | None | None | None | N |
| V/Y | 0.6748 | likely_pathogenic | 0.7338 | pathogenic | -0.594 | Destabilizing | 0.996 | D | 0.683 | prob.neutral | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.