Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27321 | 82186;82187;82188 | chr2:178564171;178564170;178564169 | chr2:179428898;179428897;179428896 |
| N2AB | 25680 | 77263;77264;77265 | chr2:178564171;178564170;178564169 | chr2:179428898;179428897;179428896 |
| N2A | 24753 | 74482;74483;74484 | chr2:178564171;178564170;178564169 | chr2:179428898;179428897;179428896 |
| N2B | 18256 | 54991;54992;54993 | chr2:178564171;178564170;178564169 | chr2:179428898;179428897;179428896 |
| Novex-1 | 18381 | 55366;55367;55368 | chr2:178564171;178564170;178564169 | chr2:179428898;179428897;179428896 |
| Novex-2 | 18448 | 55567;55568;55569 | chr2:178564171;178564170;178564169 | chr2:179428898;179428897;179428896 |
| 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/G | rs1344170347  |
None | 0.549 | N | 0.307 | 0.168 | 0.184867976434 | gnomAD-4.0.0 | 1.5914E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85835E-06 | 0 | 0 |
| A/T | None | None | 0.004 | N | 0.223 | 0.062 | 0.151104730317 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5014 | ambiguous | 0.5461 | ambiguous | -0.884 | Destabilizing | 0.992 | D | 0.327 | neutral | None | None | None | None | N |
| A/D | 0.2788 | likely_benign | 0.4114 | ambiguous | -0.635 | Destabilizing | 0.549 | D | 0.364 | neutral | N | 0.448740997 | None | None | N |
| A/E | 0.2502 | likely_benign | 0.3639 | ambiguous | -0.784 | Destabilizing | 0.447 | N | 0.289 | neutral | None | None | None | None | N |
| A/F | 0.2911 | likely_benign | 0.3612 | ambiguous | -0.97 | Destabilizing | 0.92 | D | 0.359 | neutral | None | None | None | None | N |
| A/G | 0.1192 | likely_benign | 0.1327 | benign | -0.277 | Destabilizing | 0.549 | D | 0.307 | neutral | N | 0.437985286 | None | None | N |
| A/H | 0.4558 | ambiguous | 0.5614 | ambiguous | -0.252 | Destabilizing | 0.977 | D | 0.343 | neutral | None | None | None | None | N |
| A/I | 0.1805 | likely_benign | 0.2339 | benign | -0.472 | Destabilizing | 0.85 | D | 0.311 | neutral | None | None | None | None | N |
| A/K | 0.4057 | ambiguous | 0.573 | pathogenic | -0.608 | Destabilizing | 0.447 | N | 0.283 | neutral | None | None | None | None | N |
| A/L | 0.1302 | likely_benign | 0.1634 | benign | -0.472 | Destabilizing | 0.447 | N | 0.288 | neutral | None | None | None | None | N |
| A/M | 0.2013 | likely_benign | 0.2488 | benign | -0.635 | Destabilizing | 0.977 | D | 0.279 | neutral | None | None | None | None | N |
| A/N | 0.2187 | likely_benign | 0.2912 | benign | -0.312 | Destabilizing | 0.85 | D | 0.381 | neutral | None | None | None | None | N |
| A/P | 0.1147 | likely_benign | 0.1405 | benign | -0.384 | Destabilizing | 0.002 | N | 0.236 | neutral | N | 0.421151751 | None | None | N |
| A/Q | 0.3003 | likely_benign | 0.3992 | ambiguous | -0.576 | Destabilizing | 0.127 | N | 0.271 | neutral | None | None | None | None | N |
| A/R | 0.3827 | ambiguous | 0.5216 | ambiguous | -0.166 | Destabilizing | 0.85 | D | 0.32 | neutral | None | None | None | None | N |
| A/S | 0.0902 | likely_benign | 0.1006 | benign | -0.484 | Destabilizing | 0.201 | N | 0.377 | neutral | N | 0.456821762 | None | None | N |
| A/T | 0.0857 | likely_benign | 0.098 | benign | -0.564 | Destabilizing | 0.004 | N | 0.223 | neutral | N | 0.49033969 | None | None | N |
| A/V | 0.1034 | likely_benign | 0.1196 | benign | -0.384 | Destabilizing | 0.379 | N | 0.312 | neutral | N | 0.509792243 | None | None | N |
| A/W | 0.6599 | likely_pathogenic | 0.7706 | pathogenic | -1.059 | Destabilizing | 0.992 | D | 0.497 | neutral | None | None | None | None | N |
| A/Y | 0.4281 | ambiguous | 0.5329 | ambiguous | -0.758 | Destabilizing | 0.972 | D | 0.357 | 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.