Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8309 | 25150;25151;25152 | chr2:178718081;178718080;178718079 | chr2:179582808;179582807;179582806 |
| N2AB | 7992 | 24199;24200;24201 | chr2:178718081;178718080;178718079 | chr2:179582808;179582807;179582806 |
| N2A | 7065 | 21418;21419;21420 | chr2:178718081;178718080;178718079 | chr2:179582808;179582807;179582806 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/E | rs186598275  |
-0.496 | 0.965 | N | 0.345 | 0.26 | 0.445007932271 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| A/E | rs186598275 |
-0.496 | 0.965 | N | 0.345 | 0.26 | 0.445007932271 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92976E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/E | rs186598275 |
-0.496 | 0.965 | N | 0.345 | 0.26 | 0.445007932271 | gnomAD-4.0.0 | 6.5678E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.93424E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs186598275 |
-0.202 | 0.965 | N | 0.323 | 0.259 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| A/V | rs186598275 |
-0.202 | 0.965 | N | 0.323 | 0.259 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | rs186598275 |
-0.202 | 0.965 | N | 0.323 | 0.259 | None | gnomAD-4.0.0 | 6.5678E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4705E-05 | 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 | 0.5811 | likely_pathogenic | 0.6343 | pathogenic | -0.701 | Destabilizing | 1.0 | D | 0.377 | neutral | None | None | None | None | N |
| A/D | 0.2683 | likely_benign | 0.3196 | benign | -0.54 | Destabilizing | 0.995 | D | 0.417 | neutral | None | None | None | None | N |
| A/E | 0.256 | likely_benign | 0.2935 | benign | -0.648 | Destabilizing | 0.965 | D | 0.345 | neutral | N | 0.431777829 | None | None | N |
| A/F | 0.3692 | ambiguous | 0.4266 | ambiguous | -0.878 | Destabilizing | 1.0 | D | 0.407 | neutral | None | None | None | None | N |
| A/G | 0.1309 | likely_benign | 0.1479 | benign | -0.625 | Destabilizing | 0.797 | D | 0.321 | neutral | N | 0.438455872 | None | None | N |
| A/H | 0.471 | ambiguous | 0.5281 | ambiguous | -0.701 | Destabilizing | 1.0 | D | 0.409 | neutral | None | None | None | None | N |
| A/I | 0.232 | likely_benign | 0.2709 | benign | -0.292 | Destabilizing | 0.997 | D | 0.391 | neutral | None | None | None | None | N |
| A/K | 0.4846 | ambiguous | 0.5496 | ambiguous | -0.842 | Destabilizing | 0.358 | N | 0.163 | neutral | None | None | None | None | N |
| A/L | 0.1865 | likely_benign | 0.2171 | benign | -0.292 | Destabilizing | 0.99 | D | 0.334 | neutral | None | None | None | None | N |
| A/M | 0.271 | likely_benign | 0.3024 | benign | -0.333 | Destabilizing | 1.0 | D | 0.373 | neutral | None | None | None | None | N |
| A/N | 0.1993 | likely_benign | 0.226 | benign | -0.467 | Destabilizing | 0.957 | D | 0.419 | neutral | None | None | None | None | N |
| A/P | 0.2302 | likely_benign | 0.2729 | benign | -0.318 | Destabilizing | 0.998 | D | 0.39 | neutral | N | 0.449211583 | None | None | N |
| A/Q | 0.3286 | likely_benign | 0.3674 | ambiguous | -0.691 | Destabilizing | 0.997 | D | 0.393 | neutral | None | None | None | None | N |
| A/R | 0.431 | ambiguous | 0.4813 | ambiguous | -0.419 | Destabilizing | 0.236 | N | 0.225 | neutral | None | None | None | None | N |
| A/S | 0.0872 | likely_benign | 0.0929 | benign | -0.731 | Destabilizing | 0.233 | N | 0.391 | neutral | N | 0.386506899 | None | None | N |
| A/T | 0.0898 | likely_benign | 0.0944 | benign | -0.749 | Destabilizing | 0.149 | N | 0.209 | neutral | N | 0.389181845 | None | None | N |
| A/V | 0.1359 | likely_benign | 0.1538 | benign | -0.318 | Destabilizing | 0.965 | D | 0.323 | neutral | N | 0.449038225 | None | None | N |
| A/W | 0.7542 | likely_pathogenic | 0.8078 | pathogenic | -1.096 | Destabilizing | 1.0 | D | 0.581 | neutral | None | None | None | None | N |
| A/Y | 0.4913 | ambiguous | 0.5422 | ambiguous | -0.723 | Destabilizing | 1.0 | D | 0.407 | 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.