Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31681 | 95266;95267;95268 | chr2:178546290;178546289;178546288 | chr2:179411017;179411016;179411015 |
| N2AB | 30040 | 90343;90344;90345 | chr2:178546290;178546289;178546288 | chr2:179411017;179411016;179411015 |
| N2A | 29113 | 87562;87563;87564 | chr2:178546290;178546289;178546288 | chr2:179411017;179411016;179411015 |
| N2B | 22616 | 68071;68072;68073 | chr2:178546290;178546289;178546288 | chr2:179411017;179411016;179411015 |
| Novex-1 | 22741 | 68446;68447;68448 | chr2:178546290;178546289;178546288 | chr2:179411017;179411016;179411015 |
| Novex-2 | 22808 | 68647;68648;68649 | chr2:178546290;178546289;178546288 | chr2:179411017;179411016;179411015 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs780124773  |
0.345 | 0.004 | N | 0.164 | 0.05 | 0.0401082797425 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.12E-05 | 0 |
| S/N | rs780124773 |
0.345 | 0.004 | N | 0.164 | 0.05 | 0.0401082797425 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/N | rs780124773 |
0.345 | 0.004 | N | 0.164 | 0.05 | 0.0401082797425 | gnomAD-4.0.0 | 1.05345E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.44095E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0736 | likely_benign | 0.082 | benign | -0.25 | Destabilizing | 0.25 | N | 0.343 | neutral | None | None | None | None | N |
| S/C | 0.107 | likely_benign | 0.1244 | benign | -0.128 | Destabilizing | 0.99 | D | 0.375 | neutral | N | 0.477852201 | None | None | N |
| S/D | 0.2206 | likely_benign | 0.2679 | benign | 0.039 | Stabilizing | 0.005 | N | 0.219 | neutral | None | None | None | None | N |
| S/E | 0.2916 | likely_benign | 0.3513 | ambiguous | -0.072 | Destabilizing | 0.447 | N | 0.243 | neutral | None | None | None | None | N |
| S/F | 0.1944 | likely_benign | 0.2404 | benign | -0.983 | Destabilizing | 0.739 | D | 0.379 | neutral | None | None | None | None | N |
| S/G | 0.0693 | likely_benign | 0.0794 | benign | -0.311 | Destabilizing | 0.201 | N | 0.256 | neutral | N | 0.490977195 | None | None | N |
| S/H | 0.2041 | likely_benign | 0.2419 | benign | -0.784 | Destabilizing | 0.85 | D | 0.351 | neutral | None | None | None | None | N |
| S/I | 0.1496 | likely_benign | 0.1955 | benign | -0.221 | Destabilizing | 0.81 | D | 0.377 | neutral | N | 0.459912531 | None | None | N |
| S/K | 0.328 | likely_benign | 0.385 | ambiguous | -0.318 | Destabilizing | 0.447 | N | 0.251 | neutral | None | None | None | None | N |
| S/L | 0.097 | likely_benign | 0.1117 | benign | -0.221 | Destabilizing | 0.447 | N | 0.359 | neutral | None | None | None | None | N |
| S/M | 0.1504 | likely_benign | 0.1805 | benign | 0.074 | Stabilizing | 0.992 | D | 0.348 | neutral | None | None | None | None | N |
| S/N | 0.0809 | likely_benign | 0.098 | benign | -0.015 | Destabilizing | 0.004 | N | 0.164 | neutral | N | 0.446724986 | None | None | N |
| S/P | 0.4248 | ambiguous | 0.4827 | ambiguous | -0.206 | Destabilizing | 0.92 | D | 0.365 | neutral | None | None | None | None | N |
| S/Q | 0.2771 | likely_benign | 0.321 | benign | -0.292 | Destabilizing | 0.85 | D | 0.339 | neutral | None | None | None | None | N |
| S/R | 0.2838 | likely_benign | 0.3345 | benign | -0.084 | Destabilizing | 0.81 | D | 0.362 | neutral | N | 0.491323912 | None | None | N |
| S/T | 0.0717 | likely_benign | 0.0848 | benign | -0.133 | Destabilizing | 0.004 | N | 0.22 | neutral | N | 0.469697846 | None | None | N |
| S/V | 0.156 | likely_benign | 0.1968 | benign | -0.206 | Destabilizing | 0.447 | N | 0.349 | neutral | None | None | None | None | N |
| S/W | 0.2691 | likely_benign | 0.3231 | benign | -1.032 | Destabilizing | 0.992 | D | 0.424 | neutral | None | None | None | None | N |
| S/Y | 0.1717 | likely_benign | 0.2098 | benign | -0.728 | Destabilizing | 0.048 | N | 0.266 | 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.