Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32023 | 96292;96293;96294 | chr2:178544077;178544076;178544075 | chr2:179408804;179408803;179408802 |
| N2AB | 30382 | 91369;91370;91371 | chr2:178544077;178544076;178544075 | chr2:179408804;179408803;179408802 |
| N2A | 29455 | 88588;88589;88590 | chr2:178544077;178544076;178544075 | chr2:179408804;179408803;179408802 |
| N2B | 22958 | 69097;69098;69099 | chr2:178544077;178544076;178544075 | chr2:179408804;179408803;179408802 |
| Novex-1 | 23083 | 69472;69473;69474 | chr2:178544077;178544076;178544075 | chr2:179408804;179408803;179408802 |
| Novex-2 | 23150 | 69673;69674;69675 | chr2:178544077;178544076;178544075 | chr2:179408804;179408803;179408802 |
| 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 | None | None | 0.014 | N | 0.279 | 0.161 | 0.198526703765 | gnomAD-4.0.0 | 6.84646E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9996E-07 | 0 | 0 |
| T/S | rs1030758412  |
None | 0.904 | N | 0.379 | 0.201 | 0.101711395817 | gnomAD-4.0.0 | 2.05394E-06 | None | None | None | None | N | None | 0 | 2.23874E-05 | None | 0 | 0 | None | 0 | 0 | 8.9996E-07 | 1.16004E-05 | 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 | 0.1291 | likely_benign | 0.1241 | benign | -0.503 | Destabilizing | 0.822 | D | 0.389 | neutral | N | 0.487184742 | None | None | N |
| T/C | 0.5347 | ambiguous | 0.5351 | ambiguous | -0.348 | Destabilizing | 0.998 | D | 0.631 | neutral | None | None | None | None | N |
| T/D | 0.8416 | likely_pathogenic | 0.7799 | pathogenic | 0.492 | Stabilizing | 0.993 | D | 0.654 | neutral | None | None | None | None | N |
| T/E | 0.7295 | likely_pathogenic | 0.6726 | pathogenic | 0.447 | Stabilizing | 0.993 | D | 0.647 | neutral | None | None | None | None | N |
| T/F | 0.4751 | ambiguous | 0.4323 | ambiguous | -0.816 | Destabilizing | 0.956 | D | 0.703 | prob.neutral | None | None | None | None | N |
| T/G | 0.4506 | ambiguous | 0.4257 | ambiguous | -0.683 | Destabilizing | 0.978 | D | 0.595 | neutral | None | None | None | None | N |
| T/H | 0.5638 | ambiguous | 0.5036 | ambiguous | -0.957 | Destabilizing | 0.998 | D | 0.677 | prob.neutral | None | None | None | None | N |
| T/I | 0.2122 | likely_benign | 0.1974 | benign | -0.142 | Destabilizing | 0.014 | N | 0.279 | neutral | N | 0.490763765 | None | None | N |
| T/K | 0.6692 | likely_pathogenic | 0.578 | pathogenic | -0.365 | Destabilizing | 0.978 | D | 0.653 | neutral | None | None | None | None | N |
| T/L | 0.1624 | likely_benign | 0.1539 | benign | -0.142 | Destabilizing | 0.304 | N | 0.418 | neutral | None | None | None | None | N |
| T/M | 0.0918 | likely_benign | 0.0891 | benign | -0.023 | Destabilizing | 0.988 | D | 0.648 | neutral | None | None | None | None | N |
| T/N | 0.2341 | likely_benign | 0.2134 | benign | -0.199 | Destabilizing | 0.99 | D | 0.561 | neutral | N | 0.425133418 | None | None | N |
| T/P | 0.2645 | likely_benign | 0.2403 | benign | -0.232 | Destabilizing | 0.99 | D | 0.664 | neutral | N | 0.475370238 | None | None | N |
| T/Q | 0.5019 | ambiguous | 0.4605 | ambiguous | -0.371 | Destabilizing | 0.993 | D | 0.661 | neutral | None | None | None | None | N |
| T/R | 0.6088 | likely_pathogenic | 0.5085 | ambiguous | -0.179 | Destabilizing | 0.993 | D | 0.662 | neutral | None | None | None | None | N |
| T/S | 0.212 | likely_benign | 0.205 | benign | -0.502 | Destabilizing | 0.904 | D | 0.379 | neutral | N | 0.455840328 | None | None | N |
| T/V | 0.1512 | likely_benign | 0.1535 | benign | -0.232 | Destabilizing | 0.304 | N | 0.382 | neutral | None | None | None | None | N |
| T/W | 0.8177 | likely_pathogenic | 0.7685 | pathogenic | -0.774 | Destabilizing | 0.998 | D | 0.691 | prob.neutral | None | None | None | None | N |
| T/Y | 0.4826 | ambiguous | 0.426 | ambiguous | -0.508 | Destabilizing | 0.978 | D | 0.709 | prob.delet. | 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.