Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 91 | 496;497;498 | chr2:178802162;178802161;178802160 | chr2:179666889;179666888;179666887 |
| N2AB | 91 | 496;497;498 | chr2:178802162;178802161;178802160 | chr2:179666889;179666888;179666887 |
| N2A | 91 | 496;497;498 | chr2:178802162;178802161;178802160 | chr2:179666889;179666888;179666887 |
| N2B | 91 | 496;497;498 | chr2:178802162;178802161;178802160 | chr2:179666889;179666888;179666887 |
| Novex-1 | 91 | 496;497;498 | chr2:178802162;178802161;178802160 | chr2:179666889;179666888;179666887 |
| Novex-2 | 91 | 496;497;498 | chr2:178802162;178802161;178802160 | chr2:179666889;179666888;179666887 |
| Novex-3 | 91 | 496;497;498 | chr2:178802162;178802161;178802160 | chr2:179666889;179666888;179666887 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/I | rs1367815458  |
None | 1.0 | D | 0.881 | 0.517 | 0.795195521471 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.83(TCAP) | N | None | 0 | 0 | 0 | 0 | 1.92308E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/I | rs1367815458 |
None | 1.0 | D | 0.881 | 0.517 | 0.795195521471 | gnomAD-4.0.0 | 6.57186E-06 | None | None | None | -0.83(TCAP) | N | None | 0 | 0 | None | 0 | 1.92308E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | None | None | 0.997 | D | 0.682 | 0.366 | 0.364926071151 | gnomAD-4.0.0 | 1.20038E-06 | None | None | None | -1.056(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31257E-06 | 0 | 0 |
| S/T | None | None | 0.981 | N | 0.599 | 0.304 | 0.273070737957 | gnomAD-4.0.0 | 3.60113E-06 | None | None | None | -1.371(TCAP) | N | None | 1.26695E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1873 | likely_benign | 0.1879 | benign | -0.773 | Destabilizing | 0.997 | D | 0.549 | neutral | None | None | None | -0.708(TCAP) | N |
| S/C | 0.4259 | ambiguous | 0.4057 | ambiguous | -0.395 | Destabilizing | 1.0 | D | 0.836 | deleterious | N | 0.471281168 | None | -1.103(TCAP) | N |
| S/D | 0.9368 | likely_pathogenic | 0.935 | pathogenic | 0.278 | Stabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | -1.205(TCAP) | N |
| S/E | 0.9579 | likely_pathogenic | 0.9582 | pathogenic | 0.314 | Stabilizing | 1.0 | D | 0.661 | neutral | None | None | None | -1.271(TCAP) | N |
| S/F | 0.8927 | likely_pathogenic | 0.8778 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | -0.853(TCAP) | N |
| S/G | 0.2754 | likely_benign | 0.2845 | benign | -1.053 | Destabilizing | 1.0 | D | 0.609 | neutral | D | 0.59156142 | None | -0.696(TCAP) | N |
| S/H | 0.9154 | likely_pathogenic | 0.9154 | pathogenic | -1.397 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | -0.439(TCAP) | N |
| S/I | 0.7851 | likely_pathogenic | 0.7674 | pathogenic | -0.123 | Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.614447508 | None | -0.83(TCAP) | N |
| S/K | 0.992 | likely_pathogenic | 0.9923 | pathogenic | -0.29 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | -1.832(TCAP) | N |
| S/L | 0.6191 | likely_pathogenic | 0.5959 | pathogenic | -0.123 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | -0.83(TCAP) | N |
| S/M | 0.7578 | likely_pathogenic | 0.7276 | pathogenic | 0.003 | Stabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | -0.631(TCAP) | N |
| S/N | 0.6693 | likely_pathogenic | 0.6519 | pathogenic | -0.344 | Destabilizing | 0.997 | D | 0.682 | prob.neutral | D | 0.641678063 | None | -1.056(TCAP) | N |
| S/P | 0.9891 | likely_pathogenic | 0.9885 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | -0.775(TCAP) | N |
| S/Q | 0.9402 | likely_pathogenic | 0.9437 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | -1.116(TCAP) | N |
| S/R | 0.9806 | likely_pathogenic | 0.9819 | pathogenic | -0.332 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.551445622 | None | -1.83(TCAP) | N |
| S/T | 0.2449 | likely_benign | 0.1905 | benign | -0.403 | Destabilizing | 0.981 | D | 0.599 | neutral | N | 0.495592617 | None | -1.371(TCAP) | N |
| S/V | 0.6846 | likely_pathogenic | 0.6407 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | -0.775(TCAP) | N |
| S/W | 0.94 | likely_pathogenic | 0.9344 | pathogenic | -0.879 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | -1.287(TCAP) | N |
| S/Y | 0.8458 | likely_pathogenic | 0.8308 | pathogenic | -0.578 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | -0.839(TCAP) | 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.