Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25959 | 78100;78101;78102 | chr2:178568257;178568256;178568255 | chr2:179432984;179432983;179432982 |
| N2AB | 24318 | 73177;73178;73179 | chr2:178568257;178568256;178568255 | chr2:179432984;179432983;179432982 |
| N2A | 23391 | 70396;70397;70398 | chr2:178568257;178568256;178568255 | chr2:179432984;179432983;179432982 |
| N2B | 16894 | 50905;50906;50907 | chr2:178568257;178568256;178568255 | chr2:179432984;179432983;179432982 |
| Novex-1 | 17019 | 51280;51281;51282 | chr2:178568257;178568256;178568255 | chr2:179432984;179432983;179432982 |
| Novex-2 | 17086 | 51481;51482;51483 | chr2:178568257;178568256;178568255 | chr2:179432984;179432983;179432982 |
| 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/I | rs746565128  |
None | 0.662 | N | 0.477 | 0.275 | 0.30212335484 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs746565128 |
None | 0.662 | N | 0.477 | 0.275 | 0.30212335484 | gnomAD-4.0.0 | 6.57765E-06 | None | None | None | None | N | None | 2.41499E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/K | None | None | 0.001 | N | 0.181 | 0.244 | 0.225902525712 | gnomAD-4.0.0 | 1.20034E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31252E-06 | 0 | 0 |
| T/R | rs746565128 |
-0.553 | 0.326 | N | 0.436 | 0.273 | 0.31411915649 | 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 |
| T/R | rs746565128 |
-0.553 | 0.326 | N | 0.436 | 0.273 | 0.31411915649 | gnomAD-4.0.0 | 1.20034E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31252E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0672 | likely_benign | 0.0655 | benign | -1.129 | Destabilizing | 0.002 | N | 0.055 | neutral | N | 0.454841116 | None | None | N |
| T/C | 0.2079 | likely_benign | 0.1933 | benign | -0.817 | Destabilizing | 0.965 | D | 0.467 | neutral | None | None | None | None | N |
| T/D | 0.4493 | ambiguous | 0.4699 | ambiguous | -0.898 | Destabilizing | 0.561 | D | 0.396 | neutral | None | None | None | None | N |
| T/E | 0.3452 | ambiguous | 0.3411 | ambiguous | -0.823 | Destabilizing | 0.209 | N | 0.39 | neutral | None | None | None | None | N |
| T/F | 0.1992 | likely_benign | 0.2 | benign | -1.045 | Destabilizing | 0.965 | D | 0.487 | neutral | None | None | None | None | N |
| T/G | 0.2094 | likely_benign | 0.2176 | benign | -1.455 | Destabilizing | 0.209 | N | 0.344 | neutral | None | None | None | None | N |
| T/H | 0.257 | likely_benign | 0.2542 | benign | -1.679 | Destabilizing | 0.901 | D | 0.482 | neutral | None | None | None | None | N |
| T/I | 0.1255 | likely_benign | 0.1259 | benign | -0.323 | Destabilizing | 0.662 | D | 0.477 | neutral | N | 0.520508747 | None | None | N |
| T/K | 0.2686 | likely_benign | 0.2856 | benign | -0.866 | Destabilizing | 0.001 | N | 0.181 | neutral | N | 0.461652445 | None | None | N |
| T/L | 0.0817 | likely_benign | 0.0857 | benign | -0.323 | Destabilizing | 0.345 | N | 0.407 | neutral | None | None | None | None | N |
| T/M | 0.0716 | likely_benign | 0.0691 | benign | -0.054 | Destabilizing | 0.965 | D | 0.465 | neutral | None | None | None | None | N |
| T/N | 0.1177 | likely_benign | 0.1214 | benign | -1.116 | Destabilizing | 0.561 | D | 0.351 | neutral | None | None | None | None | N |
| T/P | 0.7705 | likely_pathogenic | 0.8351 | pathogenic | -0.559 | Destabilizing | 0.662 | D | 0.447 | neutral | N | 0.519046775 | None | None | N |
| T/Q | 0.234 | likely_benign | 0.2213 | benign | -1.178 | Destabilizing | 0.561 | D | 0.487 | neutral | None | None | None | None | N |
| T/R | 0.223 | likely_benign | 0.2379 | benign | -0.733 | Destabilizing | 0.326 | N | 0.436 | neutral | N | 0.502805634 | None | None | N |
| T/S | 0.0923 | likely_benign | 0.0919 | benign | -1.382 | Destabilizing | 0.002 | N | 0.051 | neutral | N | 0.457900064 | None | None | N |
| T/V | 0.0941 | likely_benign | 0.0913 | benign | -0.559 | Destabilizing | 0.345 | N | 0.343 | neutral | None | None | None | None | N |
| T/W | 0.5375 | ambiguous | 0.564 | pathogenic | -1.014 | Destabilizing | 0.991 | D | 0.471 | neutral | None | None | None | None | N |
| T/Y | 0.246 | likely_benign | 0.2484 | benign | -0.744 | Destabilizing | 0.965 | D | 0.477 | 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.