Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29489 | 88690;88691;88692 | chr2:178554994;178554993;178554992 | chr2:179419721;179419720;179419719 |
| N2AB | 27848 | 83767;83768;83769 | chr2:178554994;178554993;178554992 | chr2:179419721;179419720;179419719 |
| N2A | 26921 | 80986;80987;80988 | chr2:178554994;178554993;178554992 | chr2:179419721;179419720;179419719 |
| N2B | 20424 | 61495;61496;61497 | chr2:178554994;178554993;178554992 | chr2:179419721;179419720;179419719 |
| Novex-1 | 20549 | 61870;61871;61872 | chr2:178554994;178554993;178554992 | chr2:179419721;179419720;179419719 |
| Novex-2 | 20616 | 62071;62072;62073 | chr2:178554994;178554993;178554992 | chr2:179419721;179419720;179419719 |
| 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/A | None | None | 0.024 | N | 0.308 | 0.29 | 0.645225581225 | gnomAD-4.0.0 | 1.59158E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85825E-06 | 0 | 0 |
| V/D | None | None | 0.295 | N | 0.589 | 0.614 | 0.830780396886 | gnomAD-4.0.0 | 1.59158E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85825E-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 | 0.2351 | likely_benign | 0.1937 | benign | -1.438 | Destabilizing | 0.024 | N | 0.308 | neutral | N | 0.500451267 | None | None | N |
| V/C | 0.7384 | likely_pathogenic | 0.7141 | pathogenic | -1.082 | Destabilizing | 0.864 | D | 0.494 | neutral | None | None | None | None | N |
| V/D | 0.6312 | likely_pathogenic | 0.5387 | ambiguous | -1.028 | Destabilizing | 0.295 | N | 0.589 | neutral | N | 0.498350352 | None | None | N |
| V/E | 0.4175 | ambiguous | 0.3412 | ambiguous | -1.036 | Destabilizing | 0.356 | N | 0.565 | neutral | None | None | None | None | N |
| V/F | 0.1913 | likely_benign | 0.1586 | benign | -1.199 | Destabilizing | None | N | 0.204 | neutral | N | 0.467493487 | None | None | N |
| V/G | 0.3743 | ambiguous | 0.312 | benign | -1.753 | Destabilizing | 0.106 | N | 0.547 | neutral | N | 0.516748871 | None | None | N |
| V/H | 0.6645 | likely_pathogenic | 0.6 | pathogenic | -1.261 | Destabilizing | 0.864 | D | 0.57 | neutral | None | None | None | None | N |
| V/I | 0.0695 | likely_benign | 0.066 | benign | -0.68 | Destabilizing | None | N | 0.099 | neutral | N | 0.3976494 | None | None | N |
| V/K | 0.4268 | ambiguous | 0.3529 | ambiguous | -1.106 | Destabilizing | 0.136 | N | 0.558 | neutral | None | None | None | None | N |
| V/L | 0.1868 | likely_benign | 0.1719 | benign | -0.68 | Destabilizing | 0.001 | N | 0.264 | neutral | N | 0.48047864 | None | None | N |
| V/M | 0.127 | likely_benign | 0.1136 | benign | -0.554 | Destabilizing | 0.007 | N | 0.245 | neutral | None | None | None | None | N |
| V/N | 0.5031 | ambiguous | 0.4313 | ambiguous | -0.884 | Destabilizing | 0.628 | D | 0.579 | neutral | None | None | None | None | N |
| V/P | 0.735 | likely_pathogenic | 0.6449 | pathogenic | -0.896 | Destabilizing | 0.628 | D | 0.549 | neutral | None | None | None | None | N |
| V/Q | 0.3932 | ambiguous | 0.345 | ambiguous | -1.051 | Destabilizing | 0.356 | N | 0.554 | neutral | None | None | None | None | N |
| V/R | 0.3586 | ambiguous | 0.2974 | benign | -0.604 | Destabilizing | 0.356 | N | 0.578 | neutral | None | None | None | None | N |
| V/S | 0.3463 | ambiguous | 0.2906 | benign | -1.453 | Destabilizing | 0.136 | N | 0.501 | neutral | None | None | None | None | N |
| V/T | 0.2043 | likely_benign | 0.1739 | benign | -1.338 | Destabilizing | 0.072 | N | 0.371 | neutral | None | None | None | None | N |
| V/W | 0.7875 | likely_pathogenic | 0.7152 | pathogenic | -1.339 | Destabilizing | 0.864 | D | 0.575 | neutral | None | None | None | None | N |
| V/Y | 0.6176 | likely_pathogenic | 0.5529 | ambiguous | -1.047 | Destabilizing | 0.038 | N | 0.494 | 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.