Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23405 | 70438;70439;70440 | chr2:178575919;178575918;178575917 | chr2:179440646;179440645;179440644 |
| N2AB | 21764 | 65515;65516;65517 | chr2:178575919;178575918;178575917 | chr2:179440646;179440645;179440644 |
| N2A | 20837 | 62734;62735;62736 | chr2:178575919;178575918;178575917 | chr2:179440646;179440645;179440644 |
| N2B | 14340 | 43243;43244;43245 | chr2:178575919;178575918;178575917 | chr2:179440646;179440645;179440644 |
| Novex-1 | 14465 | 43618;43619;43620 | chr2:178575919;178575918;178575917 | chr2:179440646;179440645;179440644 |
| Novex-2 | 14532 | 43819;43820;43821 | chr2:178575919;178575918;178575917 | chr2:179440646;179440645;179440644 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/S | rs1709915221  |
None | 0.822 | N | 0.631 | 0.463 | 0.677873887768 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/S | rs1709915221 |
None | 0.822 | N | 0.631 | 0.463 | 0.677873887768 | gnomAD-4.0.0 | 6.57523E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47089E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.6097 | likely_pathogenic | 0.6409 | pathogenic | -0.707 | Destabilizing | 0.559 | D | 0.492 | neutral | None | None | None | None | N |
| C/D | 0.9976 | likely_pathogenic | 0.9982 | pathogenic | -1.548 | Destabilizing | 0.956 | D | 0.721 | prob.delet. | None | None | None | None | N |
| C/E | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -1.432 | Destabilizing | 0.978 | D | 0.735 | prob.delet. | None | None | None | None | N |
| C/F | 0.9824 | likely_pathogenic | 0.9885 | pathogenic | -0.78 | Destabilizing | 0.99 | D | 0.683 | prob.neutral | D | 0.532768756 | None | None | N |
| C/G | 0.6501 | likely_pathogenic | 0.7306 | pathogenic | -0.953 | Destabilizing | 0.014 | N | 0.518 | neutral | D | 0.533115472 | None | None | N |
| C/H | 0.9966 | likely_pathogenic | 0.9975 | pathogenic | -1.604 | Destabilizing | 0.998 | D | 0.713 | prob.delet. | None | None | None | None | N |
| C/I | 0.9058 | likely_pathogenic | 0.9408 | pathogenic | -0.113 | Destabilizing | 0.993 | D | 0.671 | neutral | None | None | None | None | N |
| C/K | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -0.496 | Destabilizing | 0.956 | D | 0.732 | prob.delet. | None | None | None | None | N |
| C/L | 0.9481 | likely_pathogenic | 0.9679 | pathogenic | -0.113 | Destabilizing | 0.926 | D | 0.619 | neutral | None | None | None | None | N |
| C/M | 0.959 | likely_pathogenic | 0.967 | pathogenic | 0.368 | Stabilizing | 0.998 | D | 0.639 | neutral | None | None | None | None | N |
| C/N | 0.9774 | likely_pathogenic | 0.9821 | pathogenic | -0.867 | Destabilizing | 0.956 | D | 0.737 | prob.delet. | None | None | None | None | N |
| C/P | 0.9929 | likely_pathogenic | 0.9948 | pathogenic | -0.284 | Destabilizing | 0.993 | D | 0.729 | prob.delet. | None | None | None | None | N |
| C/Q | 0.9964 | likely_pathogenic | 0.9973 | pathogenic | -0.791 | Destabilizing | 0.993 | D | 0.741 | deleterious | None | None | None | None | N |
| C/R | 0.996 | likely_pathogenic | 0.9973 | pathogenic | -0.695 | Destabilizing | 0.97 | D | 0.731 | prob.delet. | D | 0.533115472 | None | None | N |
| C/S | 0.5907 | likely_pathogenic | 0.6248 | pathogenic | -0.967 | Destabilizing | 0.822 | D | 0.631 | neutral | N | 0.403572507 | None | None | N |
| C/T | 0.7144 | likely_pathogenic | 0.7612 | pathogenic | -0.708 | Destabilizing | 0.978 | D | 0.662 | neutral | None | None | None | None | N |
| C/V | 0.6918 | likely_pathogenic | 0.7505 | pathogenic | -0.284 | Destabilizing | 0.926 | D | 0.633 | neutral | None | None | None | None | N |
| C/W | 0.9967 | likely_pathogenic | 0.998 | pathogenic | -1.211 | Destabilizing | 0.997 | D | 0.674 | neutral | D | 0.533288831 | None | None | N |
| C/Y | 0.9933 | likely_pathogenic | 0.9956 | pathogenic | -0.814 | Destabilizing | 0.99 | D | 0.689 | prob.neutral | D | 0.533115472 | 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.