Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30778 | 92557;92558;92559 | chr2:178549294;178549293;178549292 | chr2:179414021;179414020;179414019 |
| N2AB | 29137 | 87634;87635;87636 | chr2:178549294;178549293;178549292 | chr2:179414021;179414020;179414019 |
| N2A | 28210 | 84853;84854;84855 | chr2:178549294;178549293;178549292 | chr2:179414021;179414020;179414019 |
| N2B | 21713 | 65362;65363;65364 | chr2:178549294;178549293;178549292 | chr2:179414021;179414020;179414019 |
| Novex-1 | 21838 | 65737;65738;65739 | chr2:178549294;178549293;178549292 | chr2:179414021;179414020;179414019 |
| Novex-2 | 21905 | 65938;65939;65940 | chr2:178549294;178549293;178549292 | chr2:179414021;179414020;179414019 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/R | rs201019681  |
-0.498 | 0.81 | N | 0.548 | 0.218 | None | gnomAD-2.1.1 | 8.55E-05 | None | None | None | None | N | None | 4.13E-05 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 1.59859E-04 | 1.40198E-04 | 0 |
| T/R | rs201019681 |
-0.498 | 0.81 | N | 0.548 | 0.218 | None | gnomAD-3.1.2 | 1.18307E-04 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 1.88573E-04 | 0 | 2.05804E-04 | 0 | 0 |
| T/R | rs201019681 |
-0.498 | 0.81 | N | 0.548 | 0.218 | None | gnomAD-4.0.0 | 2.29277E-04 | None | None | None | None | N | None | 2.67008E-05 | 3.33356E-05 | None | 0 | 0 | None | 1.09372E-04 | 0 | 2.98346E-04 | 0 | 1.12072E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1124 | likely_benign | 0.1322 | benign | -0.934 | Destabilizing | 0.334 | N | 0.399 | neutral | N | 0.47975303 | None | None | N |
| T/C | 0.3193 | likely_benign | 0.3423 | ambiguous | -0.476 | Destabilizing | 0.992 | D | 0.549 | neutral | None | None | None | None | N |
| T/D | 0.6597 | likely_pathogenic | 0.687 | pathogenic | -0.342 | Destabilizing | 0.447 | N | 0.478 | neutral | None | None | None | None | N |
| T/E | 0.5337 | ambiguous | 0.5832 | pathogenic | -0.206 | Destabilizing | 0.617 | D | 0.473 | neutral | None | None | None | None | N |
| T/F | 0.4725 | ambiguous | 0.5257 | ambiguous | -0.777 | Destabilizing | 0.739 | D | 0.599 | neutral | None | None | None | None | N |
| T/G | 0.2974 | likely_benign | 0.3248 | benign | -1.295 | Destabilizing | 0.447 | N | 0.499 | neutral | None | None | None | None | N |
| T/H | 0.416 | ambiguous | 0.449 | ambiguous | -1.245 | Destabilizing | 0.977 | D | 0.602 | neutral | None | None | None | None | N |
| T/I | 0.2478 | likely_benign | 0.2777 | benign | -0.014 | Destabilizing | 0.016 | N | 0.331 | neutral | N | 0.495326071 | None | None | N |
| T/K | 0.2995 | likely_benign | 0.3346 | benign | -0.269 | Destabilizing | 0.549 | D | 0.461 | neutral | N | 0.516750792 | None | None | N |
| T/L | 0.072 | likely_benign | 0.0702 | benign | -0.014 | Destabilizing | 0.001 | N | 0.34 | neutral | None | None | None | None | N |
| T/M | 0.0791 | likely_benign | 0.0852 | benign | -0.058 | Destabilizing | 0.85 | D | 0.551 | neutral | None | None | None | None | N |
| T/N | 0.1319 | likely_benign | 0.139 | benign | -0.673 | Destabilizing | 0.005 | N | 0.31 | neutral | None | None | None | None | N |
| T/P | 0.1282 | likely_benign | 0.1312 | benign | -0.289 | Destabilizing | 0.963 | D | 0.537 | neutral | N | 0.47390368 | None | None | N |
| T/Q | 0.296 | likely_benign | 0.323 | benign | -0.554 | Destabilizing | 0.92 | D | 0.546 | neutral | None | None | None | None | N |
| T/R | 0.2555 | likely_benign | 0.2834 | benign | -0.294 | Destabilizing | 0.81 | D | 0.548 | neutral | N | 0.505437721 | None | None | N |
| T/S | 0.1851 | likely_benign | 0.2095 | benign | -1.038 | Destabilizing | 0.201 | N | 0.443 | neutral | N | 0.483752275 | None | None | N |
| T/V | 0.1829 | likely_benign | 0.1971 | benign | -0.289 | Destabilizing | 0.25 | N | 0.342 | neutral | None | None | None | None | N |
| T/W | 0.7681 | likely_pathogenic | 0.7929 | pathogenic | -0.821 | Destabilizing | 0.992 | D | 0.631 | neutral | None | None | None | None | N |
| T/Y | 0.4212 | ambiguous | 0.4763 | ambiguous | -0.476 | Destabilizing | 0.92 | D | 0.591 | 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.