Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31292 | 94099;94100;94101 | chr2:178547752;178547751;178547750 | chr2:179412479;179412478;179412477 |
| N2AB | 29651 | 89176;89177;89178 | chr2:178547752;178547751;178547750 | chr2:179412479;179412478;179412477 |
| N2A | 28724 | 86395;86396;86397 | chr2:178547752;178547751;178547750 | chr2:179412479;179412478;179412477 |
| N2B | 22227 | 66904;66905;66906 | chr2:178547752;178547751;178547750 | chr2:179412479;179412478;179412477 |
| Novex-1 | 22352 | 67279;67280;67281 | chr2:178547752;178547751;178547750 | chr2:179412479;179412478;179412477 |
| Novex-2 | 22419 | 67480;67481;67482 | chr2:178547752;178547751;178547750 | chr2:179412479;179412478;179412477 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs767641332  |
-0.495 | 0.999 | N | 0.606 | 0.555 | None | gnomAD-2.1.1 | 3.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.1E-05 | 0 |
| N/D | rs767641332 |
-0.495 | 0.999 | N | 0.606 | 0.555 | None | gnomAD-4.0.0 | 1.16309E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.43908E-05 | 0 | 1.65634E-05 |
| N/Y | None | None | 1.0 | D | 0.66 | 0.705 | 0.722118035549 | gnomAD-4.0.0 | 6.84172E-07 | None | None | None | None | I | None | 2.98793E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9853 | likely_pathogenic | 0.9924 | pathogenic | -0.585 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | I |
| N/C | 0.9381 | likely_pathogenic | 0.9566 | pathogenic | 0.132 | Stabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | I |
| N/D | 0.9569 | likely_pathogenic | 0.9752 | pathogenic | -1.05 | Destabilizing | 0.999 | D | 0.606 | neutral | N | 0.512594179 | None | None | I |
| N/E | 0.9927 | likely_pathogenic | 0.9962 | pathogenic | -1.022 | Destabilizing | 0.999 | D | 0.668 | neutral | None | None | None | None | I |
| N/F | 0.9987 | likely_pathogenic | 0.9994 | pathogenic | -0.721 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | I |
| N/G | 0.954 | likely_pathogenic | 0.969 | pathogenic | -0.844 | Destabilizing | 0.999 | D | 0.574 | neutral | None | None | None | None | I |
| N/H | 0.957 | likely_pathogenic | 0.9756 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | D | 0.531965881 | None | None | I |
| N/I | 0.9836 | likely_pathogenic | 0.993 | pathogenic | 0.04 | Stabilizing | 1.0 | D | 0.64 | neutral | N | 0.520863065 | None | None | I |
| N/K | 0.9955 | likely_pathogenic | 0.998 | pathogenic | -0.226 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | D | 0.531458902 | None | None | I |
| N/L | 0.9788 | likely_pathogenic | 0.9888 | pathogenic | 0.04 | Stabilizing | 1.0 | D | 0.618 | neutral | None | None | None | None | I |
| N/M | 0.9831 | likely_pathogenic | 0.991 | pathogenic | 0.689 | Stabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | I |
| N/P | 0.9973 | likely_pathogenic | 0.999 | pathogenic | -0.141 | Destabilizing | 1.0 | D | 0.623 | neutral | None | None | None | None | I |
| N/Q | 0.9951 | likely_pathogenic | 0.9975 | pathogenic | -0.986 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | I |
| N/R | 0.9953 | likely_pathogenic | 0.9979 | pathogenic | -0.119 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | I |
| N/S | 0.7398 | likely_pathogenic | 0.7858 | pathogenic | -0.65 | Destabilizing | 0.999 | D | 0.581 | neutral | N | 0.497755153 | None | None | I |
| N/T | 0.9173 | likely_pathogenic | 0.9432 | pathogenic | -0.472 | Destabilizing | 0.999 | D | 0.658 | neutral | D | 0.530951923 | None | None | I |
| N/V | 0.9782 | likely_pathogenic | 0.9901 | pathogenic | -0.141 | Destabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | I |
| N/W | 0.9992 | likely_pathogenic | 0.9997 | pathogenic | -0.593 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | I |
| N/Y | 0.9797 | likely_pathogenic | 0.9898 | pathogenic | -0.326 | Destabilizing | 1.0 | D | 0.66 | neutral | D | 0.531965881 | None | None | I |
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.