Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13728 | 41407;41408;41409 | chr2:178636545;178636544;178636543 | chr2:179501272;179501271;179501270 |
| N2AB | 12087 | 36484;36485;36486 | chr2:178636545;178636544;178636543 | chr2:179501272;179501271;179501270 |
| N2A | 11160 | 33703;33704;33705 | chr2:178636545;178636544;178636543 | chr2:179501272;179501271;179501270 |
| N2B | 4663 | 14212;14213;14214 | chr2:178636545;178636544;178636543 | chr2:179501272;179501271;179501270 |
| Novex-1 | 4788 | 14587;14588;14589 | chr2:178636545;178636544;178636543 | chr2:179501272;179501271;179501270 |
| Novex-2 | 4855 | 14788;14789;14790 | chr2:178636545;178636544;178636543 | chr2:179501272;179501271;179501270 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | rs2060464524  |
None | 0.999 | N | 0.457 | 0.218 | 0.296329037015 | gnomAD-4.0.0 | 1.59193E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41429E-04 | 0 | 0 | 0 |
| E/G | None | None | 1.0 | N | 0.602 | 0.479 | 0.484400871567 | gnomAD-4.0.0 | 3.18382E-06 | None | None | None | None | N | None | 0 | 2.28686E-05 | None | 0 | 0 | None | 0 | 0 | 2.85959E-06 | 0 | 0 |
| E/K | rs765483020 |
0.288 | 0.999 | N | 0.594 | 0.464 | 0.381916209588 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| E/K | rs765483020 |
0.288 | 0.999 | N | 0.594 | 0.464 | 0.381916209588 | gnomAD-4.0.0 | 2.73732E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99599E-07 | 3.4781E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.7115 | likely_pathogenic | 0.8437 | pathogenic | -0.587 | Destabilizing | 0.999 | D | 0.627 | neutral | N | 0.513757071 | None | None | N |
| E/C | 0.9964 | likely_pathogenic | 0.9978 | pathogenic | -0.328 | Destabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | N |
| E/D | 0.6215 | likely_pathogenic | 0.807 | pathogenic | -0.575 | Destabilizing | 0.999 | D | 0.457 | neutral | N | 0.514099582 | None | None | N |
| E/F | 0.9947 | likely_pathogenic | 0.9978 | pathogenic | 0.015 | Stabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| E/G | 0.7782 | likely_pathogenic | 0.8712 | pathogenic | -0.877 | Destabilizing | 1.0 | D | 0.602 | neutral | N | 0.516153264 | None | None | N |
| E/H | 0.984 | likely_pathogenic | 0.9934 | pathogenic | 0.256 | Stabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| E/I | 0.9678 | likely_pathogenic | 0.9831 | pathogenic | 0.181 | Stabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| E/K | 0.916 | likely_pathogenic | 0.9569 | pathogenic | 0.133 | Stabilizing | 0.999 | D | 0.594 | neutral | N | 0.51283326 | None | None | N |
| E/L | 0.963 | likely_pathogenic | 0.9844 | pathogenic | 0.181 | Stabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| E/M | 0.9738 | likely_pathogenic | 0.9871 | pathogenic | 0.265 | Stabilizing | 1.0 | D | 0.585 | neutral | None | None | None | None | N |
| E/N | 0.909 | likely_pathogenic | 0.9595 | pathogenic | -0.577 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| E/P | 0.8856 | likely_pathogenic | 0.9489 | pathogenic | -0.054 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| E/Q | 0.7251 | likely_pathogenic | 0.8542 | pathogenic | -0.45 | Destabilizing | 1.0 | D | 0.561 | neutral | N | 0.5129643 | None | None | N |
| E/R | 0.9459 | likely_pathogenic | 0.9738 | pathogenic | 0.507 | Stabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| E/S | 0.8297 | likely_pathogenic | 0.9077 | pathogenic | -0.736 | Destabilizing | 0.999 | D | 0.611 | neutral | None | None | None | None | N |
| E/T | 0.9243 | likely_pathogenic | 0.9608 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| E/V | 0.9047 | likely_pathogenic | 0.9492 | pathogenic | -0.054 | Destabilizing | 1.0 | D | 0.647 | neutral | N | 0.51634958 | None | None | N |
| E/W | 0.9986 | likely_pathogenic | 0.9994 | pathogenic | 0.328 | Stabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| E/Y | 0.989 | likely_pathogenic | 0.9951 | pathogenic | 0.304 | Stabilizing | 1.0 | D | 0.617 | 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.