Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7905 | 23938;23939;23940 | chr2:178719779;178719778;178719777 | chr2:179584506;179584505;179584504 |
| N2AB | 7588 | 22987;22988;22989 | chr2:178719779;178719778;178719777 | chr2:179584506;179584505;179584504 |
| N2A | 6661 | 20206;20207;20208 | chr2:178719779;178719778;178719777 | chr2:179584506;179584505;179584504 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs756887462  |
-0.031 | None | N | 0.125 | 0.076 | 0.137902524267 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 1.29333E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs756887462 |
-0.031 | None | N | 0.125 | 0.076 | 0.137902524267 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/A | rs756887462 |
-0.031 | None | N | 0.125 | 0.076 | 0.137902524267 | gnomAD-4.0.0 | 2.56346E-06 | None | None | None | None | N | None | 3.38421E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | None | None | 0.012 | N | 0.369 | 0.23 | 0.405700215632 | gnomAD-4.0.0 | 1.59207E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43328E-05 | 0 |
| P/S | None | None | 0.002 | N | 0.177 | 0.067 | 0.119812018005 | gnomAD-4.0.0 | 1.59211E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77346E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0746 | likely_benign | 0.0811 | benign | -1.381 | Destabilizing | None | N | 0.125 | neutral | N | 0.467329545 | None | None | N |
| P/C | 0.4387 | ambiguous | 0.4545 | ambiguous | -0.795 | Destabilizing | 0.676 | D | 0.243 | neutral | None | None | None | None | N |
| P/D | 0.3843 | ambiguous | 0.4268 | ambiguous | -1.282 | Destabilizing | 0.072 | N | 0.313 | neutral | None | None | None | None | N |
| P/E | 0.2932 | likely_benign | 0.3361 | benign | -1.318 | Destabilizing | 0.072 | N | 0.33 | neutral | None | None | None | None | N |
| P/F | 0.4579 | ambiguous | 0.4578 | ambiguous | -1.193 | Destabilizing | 0.356 | N | 0.283 | neutral | None | None | None | None | N |
| P/G | 0.2882 | likely_benign | 0.3056 | benign | -1.662 | Destabilizing | 0.016 | N | 0.311 | neutral | None | None | None | None | N |
| P/H | 0.1834 | likely_benign | 0.1899 | benign | -1.196 | Destabilizing | 0.56 | D | 0.234 | neutral | N | 0.460238018 | None | None | N |
| P/I | 0.289 | likely_benign | 0.2964 | benign | -0.722 | Destabilizing | 0.001 | N | 0.289 | neutral | None | None | None | None | N |
| P/K | 0.3338 | likely_benign | 0.3762 | ambiguous | -1.158 | Destabilizing | 0.001 | N | 0.179 | neutral | None | None | None | None | N |
| P/L | 0.1279 | likely_benign | 0.1317 | benign | -0.722 | Destabilizing | 0.012 | N | 0.369 | neutral | N | 0.493265352 | None | None | N |
| P/M | 0.3121 | likely_benign | 0.3292 | benign | -0.45 | Destabilizing | 0.356 | N | 0.251 | neutral | None | None | None | None | N |
| P/N | 0.2737 | likely_benign | 0.2993 | benign | -0.854 | Destabilizing | 0.072 | N | 0.325 | neutral | None | None | None | None | N |
| P/Q | 0.1691 | likely_benign | 0.1862 | benign | -1.08 | Destabilizing | 0.214 | N | 0.366 | neutral | None | None | None | None | N |
| P/R | 0.1839 | likely_benign | 0.1964 | benign | -0.555 | Destabilizing | 0.029 | N | 0.323 | neutral | N | 0.49436143 | None | None | N |
| P/S | 0.0984 | likely_benign | 0.1032 | benign | -1.31 | Destabilizing | 0.002 | N | 0.177 | neutral | N | 0.435099696 | None | None | N |
| P/T | 0.093 | likely_benign | 0.0988 | benign | -1.244 | Destabilizing | 0.001 | N | 0.181 | neutral | N | 0.41291627 | None | None | N |
| P/V | 0.1862 | likely_benign | 0.2001 | benign | -0.906 | Destabilizing | 0.016 | N | 0.336 | neutral | None | None | None | None | N |
| P/W | 0.6245 | likely_pathogenic | 0.6341 | pathogenic | -1.35 | Destabilizing | 0.864 | D | 0.319 | neutral | None | None | None | None | N |
| P/Y | 0.3954 | ambiguous | 0.4017 | ambiguous | -1.08 | Destabilizing | 0.356 | N | 0.277 | 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.