Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21415 | 64468;64469;64470 | chr2:178586658;178586657;178586656 | chr2:179451385;179451384;179451383 |
| N2AB | 19774 | 59545;59546;59547 | chr2:178586658;178586657;178586656 | chr2:179451385;179451384;179451383 |
| N2A | 18847 | 56764;56765;56766 | chr2:178586658;178586657;178586656 | chr2:179451385;179451384;179451383 |
| N2B | 12350 | 37273;37274;37275 | chr2:178586658;178586657;178586656 | chr2:179451385;179451384;179451383 |
| Novex-1 | 12475 | 37648;37649;37650 | chr2:178586658;178586657;178586656 | chr2:179451385;179451384;179451383 |
| Novex-2 | 12542 | 37849;37850;37851 | chr2:178586658;178586657;178586656 | chr2:179451385;179451384;179451383 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs369299712  |
-1.05 | 1.0 | D | 0.669 | 0.475 | 0.633365762502 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| W/C | rs369299712 |
-1.05 | 1.0 | D | 0.669 | 0.475 | 0.633365762502 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| W/C | rs369299712 |
-1.05 | 1.0 | D | 0.669 | 0.475 | 0.633365762502 | gnomAD-4.0.0 | 1.30187E-05 | None | None | None | None | N | None | 0 | 1.66795E-05 | None | 0 | 0 | None | 0 | 0 | 1.69576E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.997 | likely_pathogenic | 0.9938 | pathogenic | -3.222 | Highly Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| W/C | 0.998 | likely_pathogenic | 0.996 | pathogenic | -1.445 | Destabilizing | 1.0 | D | 0.669 | neutral | D | 0.529697702 | None | None | N |
| W/D | 0.9976 | likely_pathogenic | 0.9961 | pathogenic | -1.954 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| W/E | 0.9984 | likely_pathogenic | 0.9969 | pathogenic | -1.883 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| W/F | 0.735 | likely_pathogenic | 0.6651 | pathogenic | -1.982 | Destabilizing | 1.0 | D | 0.613 | neutral | None | None | None | None | N |
| W/G | 0.9827 | likely_pathogenic | 0.9724 | pathogenic | -3.406 | Highly Destabilizing | 1.0 | D | 0.625 | neutral | D | 0.540204633 | None | None | N |
| W/H | 0.9954 | likely_pathogenic | 0.9919 | pathogenic | -1.631 | Destabilizing | 1.0 | D | 0.66 | neutral | None | None | None | None | N |
| W/I | 0.9938 | likely_pathogenic | 0.987 | pathogenic | -2.538 | Highly Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| W/K | 0.9995 | likely_pathogenic | 0.999 | pathogenic | -1.614 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| W/L | 0.9849 | likely_pathogenic | 0.974 | pathogenic | -2.538 | Highly Destabilizing | 1.0 | D | 0.625 | neutral | N | 0.501589814 | None | None | N |
| W/M | 0.9952 | likely_pathogenic | 0.9911 | pathogenic | -1.99 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| W/N | 0.9978 | likely_pathogenic | 0.9963 | pathogenic | -1.883 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| W/P | 0.9968 | likely_pathogenic | 0.9932 | pathogenic | -2.784 | Highly Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| W/Q | 0.9994 | likely_pathogenic | 0.9986 | pathogenic | -1.962 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| W/R | 0.9992 | likely_pathogenic | 0.9984 | pathogenic | -0.925 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | N | 0.517834418 | None | None | N |
| W/S | 0.9939 | likely_pathogenic | 0.9883 | pathogenic | -2.368 | Highly Destabilizing | 1.0 | D | 0.709 | prob.delet. | D | 0.527162807 | None | None | N |
| W/T | 0.9965 | likely_pathogenic | 0.9927 | pathogenic | -2.252 | Highly Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| W/V | 0.9933 | likely_pathogenic | 0.9857 | pathogenic | -2.784 | Highly Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| W/Y | 0.8878 | likely_pathogenic | 0.8534 | pathogenic | -1.68 | Destabilizing | 1.0 | D | 0.569 | 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.