Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31398 | 94417;94418;94419 | chr2:178547434;178547433;178547432 | chr2:179412161;179412160;179412159 |
| N2AB | 29757 | 89494;89495;89496 | chr2:178547434;178547433;178547432 | chr2:179412161;179412160;179412159 |
| N2A | 28830 | 86713;86714;86715 | chr2:178547434;178547433;178547432 | chr2:179412161;179412160;179412159 |
| N2B | 22333 | 67222;67223;67224 | chr2:178547434;178547433;178547432 | chr2:179412161;179412160;179412159 |
| Novex-1 | 22458 | 67597;67598;67599 | chr2:178547434;178547433;178547432 | chr2:179412161;179412160;179412159 |
| Novex-2 | 22525 | 67798;67799;67800 | chr2:178547434;178547433;178547432 | chr2:179412161;179412160;179412159 |
| 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/T | rs779953838  |
-0.29 | None | N | 0.049 | 0.103 | 0.158396225186 | gnomAD-2.1.1 | 1.66E-05 | None | None | None | None | I | None | 0 | 1.18991E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs779953838 |
-0.29 | None | N | 0.049 | 0.103 | 0.158396225186 | gnomAD-4.0.0 | 4.84731E-06 | None | None | None | None | I | None | 0 | 6.96023E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.2527 | likely_benign | 0.2537 | benign | -0.804 | Destabilizing | 0.685 | D | 0.361 | neutral | None | None | None | None | I |
| A/D | 0.126 | likely_benign | 0.1349 | benign | -0.301 | Destabilizing | 0.075 | N | 0.508 | neutral | None | None | None | None | I |
| A/E | 0.1093 | likely_benign | 0.116 | benign | -0.433 | Destabilizing | 0.03 | N | 0.352 | neutral | N | 0.326287081 | None | None | I |
| A/F | 0.174 | likely_benign | 0.1912 | benign | -0.745 | Destabilizing | 0.221 | N | 0.602 | neutral | None | None | None | None | I |
| A/G | 0.1042 | likely_benign | 0.1025 | benign | -0.327 | Destabilizing | 0.012 | N | 0.229 | neutral | N | 0.431686536 | None | None | I |
| A/H | 0.2181 | likely_benign | 0.2252 | benign | -0.366 | Destabilizing | 0.685 | D | 0.458 | neutral | None | None | None | None | I |
| A/I | 0.0934 | likely_benign | 0.1002 | benign | -0.227 | Destabilizing | 0.014 | N | 0.345 | neutral | None | None | None | None | I |
| A/K | 0.1453 | likely_benign | 0.16 | benign | -0.653 | Destabilizing | None | N | 0.263 | neutral | None | None | None | None | I |
| A/L | 0.0753 | likely_benign | 0.077 | benign | -0.227 | Destabilizing | 0.016 | N | 0.304 | neutral | None | None | None | None | I |
| A/M | 0.1026 | likely_benign | 0.1037 | benign | -0.415 | Destabilizing | 0.221 | N | 0.378 | neutral | None | None | None | None | I |
| A/N | 0.1122 | likely_benign | 0.1149 | benign | -0.347 | Destabilizing | 0.075 | N | 0.519 | neutral | None | None | None | None | I |
| A/P | 0.0878 | likely_benign | 0.0872 | benign | -0.199 | Destabilizing | 0.303 | N | 0.484 | neutral | N | 0.439804587 | None | None | I |
| A/Q | 0.1405 | likely_benign | 0.1413 | benign | -0.569 | Destabilizing | 0.007 | N | 0.259 | neutral | None | None | None | None | I |
| A/R | 0.1694 | likely_benign | 0.1893 | benign | -0.254 | Destabilizing | 0.039 | N | 0.447 | neutral | None | None | None | None | I |
| A/S | 0.073 | likely_benign | 0.0714 | benign | -0.584 | Destabilizing | 0.001 | N | 0.131 | neutral | N | 0.380180281 | None | None | I |
| A/T | 0.0614 | likely_benign | 0.0618 | benign | -0.625 | Destabilizing | None | N | 0.049 | neutral | N | 0.382951227 | None | None | I |
| A/V | 0.0655 | likely_benign | 0.0664 | benign | -0.199 | Destabilizing | None | N | 0.056 | neutral | N | 0.431513178 | None | None | I |
| A/W | 0.4733 | ambiguous | 0.4998 | ambiguous | -0.915 | Destabilizing | 0.869 | D | 0.561 | neutral | None | None | None | None | I |
| A/Y | 0.2425 | likely_benign | 0.2646 | benign | -0.557 | Destabilizing | 0.366 | N | 0.603 | neutral | None | None | None | None | I |
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.