Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15409 | 46450;46451;46452 | chr2:178620296;178620295;178620294 | chr2:179485023;179485022;179485021 |
| N2AB | 13768 | 41527;41528;41529 | chr2:178620296;178620295;178620294 | chr2:179485023;179485022;179485021 |
| N2A | 12841 | 38746;38747;38748 | chr2:178620296;178620295;178620294 | chr2:179485023;179485022;179485021 |
| N2B | 6344 | 19255;19256;19257 | chr2:178620296;178620295;178620294 | chr2:179485023;179485022;179485021 |
| Novex-1 | 6469 | 19630;19631;19632 | chr2:178620296;178620295;178620294 | chr2:179485023;179485022;179485021 |
| Novex-2 | 6536 | 19831;19832;19833 | chr2:178620296;178620295;178620294 | chr2:179485023;179485022;179485021 |
| 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 | 0.826 | D | 0.583 | 0.467 | 0.725541513621 | gnomAD-4.0.0 | 1.72961E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.07486E-06 | 0 | 0 |
| V/I | rs2058073034  |
None | 0.134 | D | 0.289 | 0.331 | 0.638268574249 | gnomAD-4.0.0 | 1.41639E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.83935E-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 | 0.3097 | likely_benign | 0.3244 | benign | -1.197 | Destabilizing | 0.826 | D | 0.583 | neutral | D | 0.598413884 | None | None | N |
| V/C | 0.7777 | likely_pathogenic | 0.8265 | pathogenic | -0.861 | Destabilizing | 0.999 | D | 0.599 | neutral | None | None | None | None | N |
| V/D | 0.6119 | likely_pathogenic | 0.6361 | pathogenic | -0.784 | Destabilizing | 0.852 | D | 0.581 | neutral | D | 0.548270084 | None | None | N |
| V/E | 0.3336 | likely_benign | 0.3433 | ambiguous | -0.744 | Destabilizing | 0.079 | N | 0.422 | neutral | None | None | None | None | N |
| V/F | 0.2623 | likely_benign | 0.267 | benign | -0.741 | Destabilizing | 0.988 | D | 0.599 | neutral | D | 0.567700576 | None | None | N |
| V/G | 0.5064 | ambiguous | 0.5376 | ambiguous | -1.536 | Destabilizing | 0.959 | D | 0.614 | neutral | D | 0.621533012 | None | None | N |
| V/H | 0.662 | likely_pathogenic | 0.6892 | pathogenic | -0.9 | Destabilizing | 0.999 | D | 0.679 | prob.neutral | None | None | None | None | N |
| V/I | 0.0783 | likely_benign | 0.0816 | benign | -0.362 | Destabilizing | 0.134 | N | 0.289 | neutral | D | 0.535289199 | None | None | N |
| V/K | 0.5077 | ambiguous | 0.4966 | ambiguous | -1.003 | Destabilizing | 0.939 | D | 0.559 | neutral | None | None | None | None | N |
| V/L | 0.23 | likely_benign | 0.2384 | benign | -0.362 | Destabilizing | 0.704 | D | 0.546 | neutral | D | 0.541396643 | None | None | N |
| V/M | 0.1773 | likely_benign | 0.1848 | benign | -0.416 | Destabilizing | 0.991 | D | 0.597 | neutral | None | None | None | None | N |
| V/N | 0.4142 | ambiguous | 0.4537 | ambiguous | -0.914 | Destabilizing | 0.991 | D | 0.665 | neutral | None | None | None | None | N |
| V/P | 0.9632 | likely_pathogenic | 0.9721 | pathogenic | -0.605 | Destabilizing | 0.997 | D | 0.633 | neutral | None | None | None | None | N |
| V/Q | 0.4108 | ambiguous | 0.4262 | ambiguous | -0.982 | Destabilizing | 0.982 | D | 0.62 | neutral | None | None | None | None | N |
| V/R | 0.4867 | ambiguous | 0.4674 | ambiguous | -0.574 | Destabilizing | 0.982 | D | 0.669 | neutral | None | None | None | None | N |
| V/S | 0.3165 | likely_benign | 0.3353 | benign | -1.48 | Destabilizing | 0.939 | D | 0.559 | neutral | None | None | None | None | N |
| V/T | 0.2221 | likely_benign | 0.238 | benign | -1.314 | Destabilizing | 0.969 | D | 0.531 | neutral | None | None | None | None | N |
| V/W | 0.8963 | likely_pathogenic | 0.9088 | pathogenic | -0.946 | Destabilizing | 0.999 | D | 0.702 | prob.neutral | None | None | None | None | N |
| V/Y | 0.6289 | likely_pathogenic | 0.6678 | pathogenic | -0.624 | Destabilizing | 0.997 | D | 0.597 | 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.