Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2549 | 7870;7871;7872 | chr2:178773319;178773318;178773317 | chr2:179638046;179638045;179638044 |
| N2AB | 2549 | 7870;7871;7872 | chr2:178773319;178773318;178773317 | chr2:179638046;179638045;179638044 |
| N2A | 2549 | 7870;7871;7872 | chr2:178773319;178773318;178773317 | chr2:179638046;179638045;179638044 |
| N2B | 2503 | 7732;7733;7734 | chr2:178773319;178773318;178773317 | chr2:179638046;179638045;179638044 |
| Novex-1 | 2503 | 7732;7733;7734 | chr2:178773319;178773318;178773317 | chr2:179638046;179638045;179638044 |
| Novex-2 | 2503 | 7732;7733;7734 | chr2:178773319;178773318;178773317 | chr2:179638046;179638045;179638044 |
| Novex-3 | 2549 | 7870;7871;7872 | chr2:178773319;178773318;178773317 | chr2:179638046;179638045;179638044 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/H | rs1277824720  |
None | 1.0 | N | 0.721 | 0.413 | 0.165133752707 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| N/H | rs1277824720 |
None | 1.0 | N | 0.721 | 0.413 | 0.165133752707 | gnomAD-4.0.0 | 1.31425E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.93962E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.453 | ambiguous | 0.4617 | ambiguous | -0.572 | Destabilizing | 0.997 | D | 0.604 | neutral | None | None | None | None | N |
| N/C | 0.6879 | likely_pathogenic | 0.688 | pathogenic | 0.271 | Stabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| N/D | 0.1445 | likely_benign | 0.1322 | benign | -0.372 | Destabilizing | 0.998 | D | 0.467 | neutral | N | 0.447188695 | None | None | N |
| N/E | 0.5607 | ambiguous | 0.5167 | ambiguous | -0.338 | Destabilizing | 0.997 | D | 0.497 | neutral | None | None | None | None | N |
| N/F | 0.9018 | likely_pathogenic | 0.8953 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| N/G | 0.5169 | ambiguous | 0.5155 | ambiguous | -0.857 | Destabilizing | 0.998 | D | 0.445 | neutral | None | None | None | None | N |
| N/H | 0.2636 | likely_benign | 0.2575 | benign | -0.825 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | N | 0.493697735 | None | None | N |
| N/I | 0.6182 | likely_pathogenic | 0.6157 | pathogenic | 0.121 | Stabilizing | 1.0 | D | 0.844 | deleterious | N | 0.493697735 | None | None | N |
| N/K | 0.5628 | ambiguous | 0.5282 | ambiguous | -0.216 | Destabilizing | 0.767 | D | 0.32 | neutral | N | 0.449194629 | None | None | N |
| N/L | 0.6161 | likely_pathogenic | 0.6102 | pathogenic | 0.121 | Stabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| N/M | 0.6305 | likely_pathogenic | 0.6294 | pathogenic | 0.599 | Stabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| N/P | 0.5798 | likely_pathogenic | 0.6263 | pathogenic | -0.08 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| N/Q | 0.6099 | likely_pathogenic | 0.5872 | pathogenic | -0.718 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | None | None | None | None | N |
| N/R | 0.6643 | likely_pathogenic | 0.6337 | pathogenic | -0.218 | Destabilizing | 0.998 | D | 0.61 | neutral | None | None | None | None | N |
| N/S | 0.1602 | likely_benign | 0.1645 | benign | -0.569 | Destabilizing | 0.996 | D | 0.415 | neutral | N | 0.443203576 | None | None | N |
| N/T | 0.2746 | likely_benign | 0.2787 | benign | -0.368 | Destabilizing | 0.998 | D | 0.531 | neutral | N | 0.428013819 | None | None | N |
| N/V | 0.5995 | likely_pathogenic | 0.6048 | pathogenic | -0.08 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| N/W | 0.9523 | likely_pathogenic | 0.9517 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| N/Y | 0.4386 | ambiguous | 0.4349 | ambiguous | -0.195 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.535812096 | 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.