Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2400 | 7423;7424;7425 | chr2:178773970;178773969;178773968 | chr2:179638697;179638696;179638695 |
| N2AB | 2400 | 7423;7424;7425 | chr2:178773970;178773969;178773968 | chr2:179638697;179638696;179638695 |
| N2A | 2400 | 7423;7424;7425 | chr2:178773970;178773969;178773968 | chr2:179638697;179638696;179638695 |
| N2B | 2354 | 7285;7286;7287 | chr2:178773970;178773969;178773968 | chr2:179638697;179638696;179638695 |
| Novex-1 | 2354 | 7285;7286;7287 | chr2:178773970;178773969;178773968 | chr2:179638697;179638696;179638695 |
| Novex-2 | 2354 | 7285;7286;7287 | chr2:178773970;178773969;178773968 | chr2:179638697;179638696;179638695 |
| Novex-3 | 2400 | 7423;7424;7425 | chr2:178773970;178773969;178773968 | chr2:179638697;179638696;179638695 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs765593704  |
-0.979 | 1.0 | D | 0.619 | 0.645 | 0.678023017383 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.83E-06 | 0 |
| R/G | rs765593704 |
-0.979 | 1.0 | D | 0.619 | 0.645 | 0.678023017383 | gnomAD-4.0.0 | 3.1811E-06 | None | None | None | None | N | None | 0 | 2.28676E-05 | None | 0 | 0 | None | 0 | 0 | 2.85662E-06 | 0 | 0 |
| R/K | None | None | 0.997 | D | 0.476 | 0.55 | 0.698733648705 | gnomAD-4.0.0 | 3.18109E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86549E-05 | 0 |
| R/S | None | None | 1.0 | D | 0.633 | 0.581 | 0.483521307902 | gnomAD-4.0.0 | 1.59056E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85662E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.8197 | likely_pathogenic | 0.8141 | pathogenic | -0.578 | Destabilizing | 0.999 | D | 0.496 | neutral | None | None | None | None | N |
| R/C | 0.4798 | ambiguous | 0.4857 | ambiguous | -0.372 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| R/D | 0.8732 | likely_pathogenic | 0.8732 | pathogenic | -0.121 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| R/E | 0.7103 | likely_pathogenic | 0.7076 | pathogenic | None | Stabilizing | 0.999 | D | 0.53 | neutral | None | None | None | None | N |
| R/F | 0.9224 | likely_pathogenic | 0.9225 | pathogenic | -0.43 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| R/G | 0.6766 | likely_pathogenic | 0.6694 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.619 | neutral | D | 0.571159113 | None | None | N |
| R/H | 0.2028 | likely_benign | 0.1995 | benign | -1.305 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| R/I | 0.7514 | likely_pathogenic | 0.7559 | pathogenic | 0.296 | Stabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| R/K | 0.2019 | likely_benign | 0.1958 | benign | -0.652 | Destabilizing | 0.997 | D | 0.476 | neutral | D | 0.541758613 | None | None | N |
| R/L | 0.6775 | likely_pathogenic | 0.6734 | pathogenic | 0.296 | Stabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | N |
| R/M | 0.7369 | likely_pathogenic | 0.7337 | pathogenic | 0.053 | Stabilizing | 1.0 | D | 0.642 | neutral | D | 0.711877091 | None | None | N |
| R/N | 0.8148 | likely_pathogenic | 0.8115 | pathogenic | -0.094 | Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | N |
| R/P | 0.9736 | likely_pathogenic | 0.9739 | pathogenic | 0.026 | Stabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| R/Q | 0.2236 | likely_benign | 0.2203 | benign | -0.24 | Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | N |
| R/S | 0.8473 | likely_pathogenic | 0.8422 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.633 | neutral | D | 0.624442523 | None | None | N |
| R/T | 0.6467 | likely_pathogenic | 0.6359 | pathogenic | -0.452 | Destabilizing | 1.0 | D | 0.633 | neutral | D | 0.597580512 | None | None | N |
| R/V | 0.8196 | likely_pathogenic | 0.8237 | pathogenic | 0.026 | Stabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| R/W | 0.5842 | likely_pathogenic | 0.586 | pathogenic | -0.146 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | D | 0.711596102 | None | None | N |
| R/Y | 0.8132 | likely_pathogenic | 0.8126 | pathogenic | 0.174 | Stabilizing | 1.0 | D | 0.663 | 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.