Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23503 | 70732;70733;70734 | chr2:178575625;178575624;178575623 | chr2:179440352;179440351;179440350 |
| N2AB | 21862 | 65809;65810;65811 | chr2:178575625;178575624;178575623 | chr2:179440352;179440351;179440350 |
| N2A | 20935 | 63028;63029;63030 | chr2:178575625;178575624;178575623 | chr2:179440352;179440351;179440350 |
| N2B | 14438 | 43537;43538;43539 | chr2:178575625;178575624;178575623 | chr2:179440352;179440351;179440350 |
| Novex-1 | 14563 | 43912;43913;43914 | chr2:178575625;178575624;178575623 | chr2:179440352;179440351;179440350 |
| Novex-2 | 14630 | 44113;44114;44115 | chr2:178575625;178575624;178575623 | chr2:179440352;179440351;179440350 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | rs778748283  |
-2.124 | 0.059 | N | 0.399 | 0.231 | None | gnomAD-4.0.0 | 2.28268E-03 | None | None | None | None | N | None | 3.55586E-03 | 1.13626E-02 | None | 1.91369E-04 | 8.00205E-03 | None | 1.54069E-03 | 0 | 1.12973E-03 | 1.23952E-03 | 1.03438E-03 |
| C/Y | rs1466729716 |
-1.243 | 0.724 | N | 0.507 | 0.25 | 0.577370020343 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| C/Y | rs1466729716 |
-1.243 | 0.724 | N | 0.507 | 0.25 | 0.577370020343 | gnomAD-4.0.0 | 1.59172E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43303E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.2309 | likely_benign | 0.2367 | benign | -1.721 | Destabilizing | 0.001 | N | 0.071 | neutral | None | None | None | None | N |
| C/D | 0.563 | ambiguous | 0.5743 | pathogenic | -0.051 | Destabilizing | 0.11 | N | 0.473 | neutral | None | None | None | None | N |
| C/E | 0.6611 | likely_pathogenic | 0.6634 | pathogenic | 0.029 | Stabilizing | 0.426 | N | 0.452 | neutral | None | None | None | None | N |
| C/F | 0.1694 | likely_benign | 0.1887 | benign | -1.145 | Destabilizing | 0.84 | D | 0.501 | neutral | N | 0.46772148 | None | None | N |
| C/G | 0.1357 | likely_benign | 0.146 | benign | -2.007 | Highly Destabilizing | 0.059 | N | 0.399 | neutral | N | 0.449677651 | None | None | N |
| C/H | 0.3442 | ambiguous | 0.3547 | ambiguous | -1.89 | Destabilizing | 0.002 | N | 0.307 | neutral | None | None | None | None | N |
| C/I | 0.3564 | ambiguous | 0.3716 | ambiguous | -0.997 | Destabilizing | 0.801 | D | 0.486 | neutral | None | None | None | None | N |
| C/K | 0.6124 | likely_pathogenic | 0.6303 | pathogenic | -0.78 | Destabilizing | 0.498 | N | 0.467 | neutral | None | None | None | None | N |
| C/L | 0.3069 | likely_benign | 0.3325 | benign | -0.997 | Destabilizing | 0.45 | N | 0.396 | neutral | None | None | None | None | N |
| C/M | 0.3744 | ambiguous | 0.3941 | ambiguous | -0.183 | Destabilizing | 0.977 | D | 0.48 | neutral | None | None | None | None | N |
| C/N | 0.2601 | likely_benign | 0.2702 | benign | -0.697 | Destabilizing | 0.002 | N | 0.268 | neutral | None | None | None | None | N |
| C/P | 0.9586 | likely_pathogenic | 0.9669 | pathogenic | -1.213 | Destabilizing | 0.637 | D | 0.542 | neutral | None | None | None | None | N |
| C/Q | 0.3963 | ambiguous | 0.4097 | ambiguous | -0.652 | Destabilizing | 0.722 | D | 0.541 | neutral | None | None | None | None | N |
| C/R | 0.354 | ambiguous | 0.3657 | ambiguous | -0.575 | Destabilizing | 0.6 | D | 0.511 | neutral | N | 0.428030156 | None | None | N |
| C/S | 0.1504 | likely_benign | 0.1517 | benign | -1.296 | Destabilizing | 0.079 | N | 0.385 | neutral | N | 0.421642901 | None | None | N |
| C/T | 0.2474 | likely_benign | 0.2483 | benign | -1.033 | Destabilizing | 0.099 | N | 0.392 | neutral | None | None | None | None | N |
| C/V | 0.2929 | likely_benign | 0.3004 | benign | -1.213 | Destabilizing | 0.234 | N | 0.398 | neutral | None | None | None | None | N |
| C/W | 0.4224 | ambiguous | 0.4457 | ambiguous | -1.062 | Destabilizing | 0.992 | D | 0.481 | neutral | N | 0.499586397 | None | None | N |
| C/Y | 0.226 | likely_benign | 0.2427 | benign | -1.067 | Destabilizing | 0.724 | D | 0.507 | neutral | N | 0.46772148 | 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.