Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19831 | 59716;59717;59718 | chr2:178592514;178592513;178592512 | chr2:179457241;179457240;179457239 |
| N2AB | 18190 | 54793;54794;54795 | chr2:178592514;178592513;178592512 | chr2:179457241;179457240;179457239 |
| N2A | 17263 | 52012;52013;52014 | chr2:178592514;178592513;178592512 | chr2:179457241;179457240;179457239 |
| N2B | 10766 | 32521;32522;32523 | chr2:178592514;178592513;178592512 | chr2:179457241;179457240;179457239 |
| Novex-1 | 10891 | 32896;32897;32898 | chr2:178592514;178592513;178592512 | chr2:179457241;179457240;179457239 |
| Novex-2 | 10958 | 33097;33098;33099 | chr2:178592514;178592513;178592512 | chr2:179457241;179457240;179457239 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs760784061  |
-0.246 | 1.0 | N | 0.556 | 0.361 | 0.301455362545 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| A/V | rs760784061 |
-0.246 | 1.0 | N | 0.556 | 0.361 | 0.301455362545 | gnomAD-4.0.0 | 4.77553E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.29923E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5336 | ambiguous | 0.5166 | ambiguous | -0.846 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| A/D | 0.8262 | likely_pathogenic | 0.8841 | pathogenic | -1.221 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| A/E | 0.7805 | likely_pathogenic | 0.8619 | pathogenic | -1.221 | Destabilizing | 1.0 | D | 0.671 | neutral | N | 0.484200365 | None | None | N |
| A/F | 0.7056 | likely_pathogenic | 0.7666 | pathogenic | -0.86 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| A/G | 0.1954 | likely_benign | 0.1978 | benign | -1.114 | Destabilizing | 1.0 | D | 0.479 | neutral | N | 0.430712597 | None | None | N |
| A/H | 0.8797 | likely_pathogenic | 0.9248 | pathogenic | -1.378 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| A/I | 0.5102 | ambiguous | 0.5493 | ambiguous | -0.196 | Destabilizing | 1.0 | D | 0.654 | neutral | None | None | None | None | N |
| A/K | 0.9441 | likely_pathogenic | 0.972 | pathogenic | -1.346 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| A/L | 0.4641 | ambiguous | 0.5418 | ambiguous | -0.196 | Destabilizing | 1.0 | D | 0.597 | neutral | None | None | None | None | N |
| A/M | 0.5211 | ambiguous | 0.5781 | pathogenic | -0.204 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| A/N | 0.7563 | likely_pathogenic | 0.8211 | pathogenic | -1.104 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| A/P | 0.7795 | likely_pathogenic | 0.8725 | pathogenic | -0.364 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | N | 0.507346583 | None | None | N |
| A/Q | 0.8001 | likely_pathogenic | 0.8788 | pathogenic | -1.186 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| A/R | 0.9044 | likely_pathogenic | 0.9515 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| A/S | 0.18 | likely_benign | 0.1778 | benign | -1.426 | Destabilizing | 1.0 | D | 0.508 | neutral | N | 0.463286375 | None | None | N |
| A/T | 0.2391 | likely_benign | 0.2459 | benign | -1.323 | Destabilizing | 1.0 | D | 0.639 | neutral | N | 0.48576059 | None | None | N |
| A/V | 0.2483 | likely_benign | 0.2667 | benign | -0.364 | Destabilizing | 1.0 | D | 0.556 | neutral | N | 0.438412147 | None | None | N |
| A/W | 0.9259 | likely_pathogenic | 0.9518 | pathogenic | -1.292 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| A/Y | 0.7709 | likely_pathogenic | 0.8324 | pathogenic | -0.854 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | 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.