Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32215 | 96868;96869;96870 | chr2:178543330;178543329;178543328 | chr2:179408057;179408056;179408055 |
| N2AB | 30574 | 91945;91946;91947 | chr2:178543330;178543329;178543328 | chr2:179408057;179408056;179408055 |
| N2A | 29647 | 89164;89165;89166 | chr2:178543330;178543329;178543328 | chr2:179408057;179408056;179408055 |
| N2B | 23150 | 69673;69674;69675 | chr2:178543330;178543329;178543328 | chr2:179408057;179408056;179408055 |
| Novex-1 | 23275 | 70048;70049;70050 | chr2:178543330;178543329;178543328 | chr2:179408057;179408056;179408055 |
| Novex-2 | 23342 | 70249;70250;70251 | chr2:178543330;178543329;178543328 | chr2:179408057;179408056;179408055 |
| 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 | rs975713554  |
None | 0.999 | N | 0.75 | 0.523 | 0.553591132476 | gnomAD-4.0.0 | 6.84184E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99449E-07 | 0 | 0 |
| T/S | rs975713554 |
-1.11 | 0.965 | N | 0.495 | 0.337 | 0.338110398507 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.66E-05 | 0 |
| T/S | rs975713554 |
-1.11 | 0.965 | N | 0.495 | 0.337 | 0.338110398507 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| T/S | rs975713554 |
-1.11 | 0.965 | N | 0.495 | 0.337 | 0.338110398507 | gnomAD-4.0.0 | 2.47876E-05 | None | None | None | None | N | None | 4.0062E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.05132E-05 | 0 | 1.60092E-05 |
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 | 0.3461 | ambiguous | 0.3454 | ambiguous | -0.78 | Destabilizing | 0.965 | D | 0.481 | neutral | N | 0.47545107 | None | None | N |
| T/C | 0.8182 | likely_pathogenic | 0.8062 | pathogenic | -0.636 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| T/D | 0.7047 | likely_pathogenic | 0.7 | pathogenic | -1.015 | Destabilizing | 0.997 | D | 0.754 | deleterious | None | None | None | None | N |
| T/E | 0.7507 | likely_pathogenic | 0.7441 | pathogenic | -1.009 | Destabilizing | 0.999 | D | 0.761 | deleterious | None | None | None | None | N |
| T/F | 0.8359 | likely_pathogenic | 0.8325 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| T/G | 0.354 | ambiguous | 0.3517 | ambiguous | -1.034 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| T/H | 0.6827 | likely_pathogenic | 0.6893 | pathogenic | -1.363 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| T/I | 0.9171 | likely_pathogenic | 0.9104 | pathogenic | -0.193 | Destabilizing | 0.999 | D | 0.75 | deleterious | N | 0.501570722 | None | None | N |
| T/K | 0.5702 | likely_pathogenic | 0.5908 | pathogenic | -0.869 | Destabilizing | 0.999 | D | 0.758 | deleterious | None | None | None | None | N |
| T/L | 0.489 | ambiguous | 0.4625 | ambiguous | -0.193 | Destabilizing | 0.998 | D | 0.637 | neutral | None | None | None | None | N |
| T/M | 0.3295 | likely_benign | 0.3124 | benign | 0.196 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| T/N | 0.3248 | likely_benign | 0.3331 | benign | -0.972 | Destabilizing | 0.997 | D | 0.742 | deleterious | N | 0.483254294 | None | None | N |
| T/P | 0.8591 | likely_pathogenic | 0.8654 | pathogenic | -0.357 | Destabilizing | 0.997 | D | 0.735 | prob.delet. | N | 0.512927028 | None | None | N |
| T/Q | 0.5256 | ambiguous | 0.5295 | ambiguous | -1.209 | Destabilizing | 0.999 | D | 0.765 | deleterious | None | None | None | None | N |
| T/R | 0.5265 | ambiguous | 0.5469 | ambiguous | -0.552 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| T/S | 0.1707 | likely_benign | 0.1675 | benign | -1.136 | Destabilizing | 0.965 | D | 0.495 | neutral | N | 0.469458278 | None | None | N |
| T/V | 0.7795 | likely_pathogenic | 0.7699 | pathogenic | -0.357 | Destabilizing | 0.997 | D | 0.548 | neutral | None | None | None | None | N |
| T/W | 0.938 | likely_pathogenic | 0.936 | pathogenic | -0.877 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| T/Y | 0.8255 | likely_pathogenic | 0.8289 | pathogenic | -0.61 | Destabilizing | 1.0 | D | 0.767 | deleterious | 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.