Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26133 | 78622;78623;78624 | chr2:178567735;178567734;178567733 | chr2:179432462;179432461;179432460 |
| N2AB | 24492 | 73699;73700;73701 | chr2:178567735;178567734;178567733 | chr2:179432462;179432461;179432460 |
| N2A | 23565 | 70918;70919;70920 | chr2:178567735;178567734;178567733 | chr2:179432462;179432461;179432460 |
| N2B | 17068 | 51427;51428;51429 | chr2:178567735;178567734;178567733 | chr2:179432462;179432461;179432460 |
| Novex-1 | 17193 | 51802;51803;51804 | chr2:178567735;178567734;178567733 | chr2:179432462;179432461;179432460 |
| Novex-2 | 17260 | 52003;52004;52005 | chr2:178567735;178567734;178567733 | chr2:179432462;179432461;179432460 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | rs1706451609  |
None | 1.0 | N | 0.627 | 0.494 | 0.340510301474 | gnomAD-4.0.0 | 1.59379E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86423E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6349 | likely_pathogenic | 0.6134 | pathogenic | -0.713 | Destabilizing | 1.0 | D | 0.533 | neutral | N | 0.490717715 | None | None | N |
| G/C | 0.7976 | likely_pathogenic | 0.7724 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | D | 0.531738845 | None | None | N |
| G/D | 0.9141 | likely_pathogenic | 0.9054 | pathogenic | -1.359 | Destabilizing | 1.0 | D | 0.599 | neutral | N | 0.51580943 | None | None | N |
| G/E | 0.9146 | likely_pathogenic | 0.9039 | pathogenic | -1.484 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| G/F | 0.9795 | likely_pathogenic | 0.9747 | pathogenic | -1.252 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| G/H | 0.9545 | likely_pathogenic | 0.9454 | pathogenic | -1.306 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| G/I | 0.9505 | likely_pathogenic | 0.9417 | pathogenic | -0.582 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| G/K | 0.9437 | likely_pathogenic | 0.9327 | pathogenic | -1.389 | Destabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | N |
| G/L | 0.9585 | likely_pathogenic | 0.9514 | pathogenic | -0.582 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| G/M | 0.9632 | likely_pathogenic | 0.9546 | pathogenic | -0.364 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| G/N | 0.8832 | likely_pathogenic | 0.8718 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.623 | neutral | None | None | None | None | N |
| G/P | 0.9952 | likely_pathogenic | 0.9947 | pathogenic | -0.589 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| G/Q | 0.9134 | likely_pathogenic | 0.8975 | pathogenic | -1.13 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| G/R | 0.8999 | likely_pathogenic | 0.8858 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | N | 0.48933859 | None | None | N |
| G/S | 0.4539 | ambiguous | 0.4473 | ambiguous | -0.938 | Destabilizing | 1.0 | D | 0.627 | neutral | N | 0.471105749 | None | None | N |
| G/T | 0.8205 | likely_pathogenic | 0.7935 | pathogenic | -1.013 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| G/V | 0.9067 | likely_pathogenic | 0.8943 | pathogenic | -0.589 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.498124001 | None | None | N |
| G/W | 0.9655 | likely_pathogenic | 0.9561 | pathogenic | -1.515 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| G/Y | 0.9613 | likely_pathogenic | 0.9514 | pathogenic | -1.184 | Destabilizing | 1.0 | D | 0.706 | 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.