Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8519 | 25780;25781;25782 | chr2:178717179;178717178;178717177 | chr2:179581906;179581905;179581904 |
| N2AB | 8202 | 24829;24830;24831 | chr2:178717179;178717178;178717177 | chr2:179581906;179581905;179581904 |
| N2A | 7275 | 22048;22049;22050 | chr2:178717179;178717178;178717177 | chr2:179581906;179581905;179581904 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | None | None | None | N | 0.339 | 0.203 | 0.144782658237 | gnomAD-4.0.0 | 3.4215E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49783E-06 | 0 | 0 |
| G/S | rs760041371  |
-0.726 | None | N | 0.173 | 0.154 | 0.159798565429 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 2.66E-05 | 0 |
| G/S | rs760041371 |
-0.726 | None | N | 0.173 | 0.154 | 0.159798565429 | gnomAD-4.0.0 | 8.2116E-06 | None | None | None | None | N | None | 0 | 2.23684E-05 | None | 0 | 0 | None | 0 | 0 | 8.99565E-06 | 0 | 1.65711E-05 |
| G/V | None | None | 0.062 | N | 0.591 | 0.143 | 0.296679040009 | gnomAD-4.0.0 | 6.84301E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99565E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.0699 | likely_benign | 0.0713 | benign | -0.427 | Destabilizing | None | N | 0.169 | neutral | N | 0.47631804 | None | None | N |
| G/C | 0.2696 | likely_benign | 0.3001 | benign | -0.892 | Destabilizing | 0.78 | D | 0.565 | neutral | N | 0.509027891 | None | None | N |
| G/D | 0.4872 | ambiguous | 0.4528 | ambiguous | -0.423 | Destabilizing | None | N | 0.339 | neutral | N | 0.425851934 | None | None | N |
| G/E | 0.4521 | ambiguous | 0.4228 | ambiguous | -0.538 | Destabilizing | 0.002 | N | 0.252 | neutral | None | None | None | None | N |
| G/F | 0.5315 | ambiguous | 0.547 | ambiguous | -0.932 | Destabilizing | 0.555 | D | 0.602 | neutral | None | None | None | None | N |
| G/H | 0.5356 | ambiguous | 0.5306 | ambiguous | -0.84 | Destabilizing | 0.555 | D | 0.563 | neutral | None | None | None | None | N |
| G/I | 0.2857 | likely_benign | 0.3203 | benign | -0.305 | Destabilizing | 0.235 | N | 0.593 | neutral | None | None | None | None | N |
| G/K | 0.6995 | likely_pathogenic | 0.6656 | pathogenic | -0.963 | Destabilizing | 0.081 | N | 0.567 | neutral | None | None | None | None | N |
| G/L | 0.2819 | likely_benign | 0.3047 | benign | -0.305 | Destabilizing | 0.081 | N | 0.599 | neutral | None | None | None | None | N |
| G/M | 0.3374 | likely_benign | 0.3613 | ambiguous | -0.372 | Destabilizing | 0.824 | D | 0.566 | neutral | None | None | None | None | N |
| G/N | 0.2689 | likely_benign | 0.2617 | benign | -0.616 | Destabilizing | 0.081 | N | 0.532 | neutral | None | None | None | None | N |
| G/P | 0.8114 | likely_pathogenic | 0.8099 | pathogenic | -0.306 | Destabilizing | 0.38 | N | 0.597 | neutral | None | None | None | None | N |
| G/Q | 0.4017 | ambiguous | 0.3893 | ambiguous | -0.815 | Destabilizing | 0.38 | N | 0.596 | neutral | None | None | None | None | N |
| G/R | 0.5226 | ambiguous | 0.4987 | ambiguous | -0.625 | Destabilizing | 0.317 | N | 0.591 | neutral | N | 0.441648106 | None | None | N |
| G/S | 0.0775 | likely_benign | 0.0793 | benign | -0.866 | Destabilizing | None | N | 0.173 | neutral | N | 0.38267716 | None | None | N |
| G/T | 0.1173 | likely_benign | 0.1211 | benign | -0.89 | Destabilizing | 0.001 | N | 0.393 | neutral | None | None | None | None | N |
| G/V | 0.1692 | likely_benign | 0.1893 | benign | -0.306 | Destabilizing | 0.062 | N | 0.591 | neutral | N | 0.467026553 | None | None | N |
| G/W | 0.4993 | ambiguous | 0.5234 | ambiguous | -1.177 | Destabilizing | 0.935 | D | 0.589 | neutral | None | None | None | None | N |
| G/Y | 0.512 | ambiguous | 0.5273 | ambiguous | -0.785 | Destabilizing | 0.555 | D | 0.587 | 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.