Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16323 | 49192;49193;49194 | chr2:178614547;178614546;178614545 | chr2:179479274;179479273;179479272 |
| N2AB | 14682 | 44269;44270;44271 | chr2:178614547;178614546;178614545 | chr2:179479274;179479273;179479272 |
| N2A | 13755 | 41488;41489;41490 | chr2:178614547;178614546;178614545 | chr2:179479274;179479273;179479272 |
| N2B | 7258 | 21997;21998;21999 | chr2:178614547;178614546;178614545 | chr2:179479274;179479273;179479272 |
| Novex-1 | 7383 | 22372;22373;22374 | chr2:178614547;178614546;178614545 | chr2:179479274;179479273;179479272 |
| Novex-2 | 7450 | 22573;22574;22575 | chr2:178614547;178614546;178614545 | chr2:179479274;179479273;179479272 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/I | None | None | 1.0 | N | 0.735 | 0.431 | 0.526842377483 | gnomAD-4.0.0 | 1.59405E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86241E-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 | 0.9919 | likely_pathogenic | 0.9941 | pathogenic | -0.574 | Destabilizing | 0.999 | D | 0.613 | neutral | None | None | None | None | N |
| R/C | 0.9136 | likely_pathogenic | 0.9529 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| R/D | 0.9978 | likely_pathogenic | 0.9983 | pathogenic | -0.149 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| R/E | 0.9823 | likely_pathogenic | 0.9866 | pathogenic | -0.068 | Destabilizing | 0.999 | D | 0.648 | neutral | None | None | None | None | N |
| R/F | 0.9956 | likely_pathogenic | 0.9975 | pathogenic | -0.669 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| R/G | 0.9884 | likely_pathogenic | 0.9914 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.596 | neutral | D | 0.558710303 | None | None | N |
| R/H | 0.768 | likely_pathogenic | 0.8934 | pathogenic | -1.205 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| R/I | 0.9704 | likely_pathogenic | 0.9776 | pathogenic | 0.091 | Stabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.501871959 | None | None | N |
| R/K | 0.591 | likely_pathogenic | 0.6975 | pathogenic | -0.634 | Destabilizing | 0.997 | D | 0.539 | neutral | N | 0.448493577 | None | None | N |
| R/L | 0.9682 | likely_pathogenic | 0.9801 | pathogenic | 0.091 | Stabilizing | 1.0 | D | 0.596 | neutral | None | None | None | None | N |
| R/M | 0.9899 | likely_pathogenic | 0.9934 | pathogenic | -0.094 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| R/N | 0.9944 | likely_pathogenic | 0.9962 | pathogenic | -0.068 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| R/P | 0.9867 | likely_pathogenic | 0.9913 | pathogenic | -0.11 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| R/Q | 0.806 | likely_pathogenic | 0.885 | pathogenic | -0.315 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| R/S | 0.9969 | likely_pathogenic | 0.998 | pathogenic | -0.721 | Destabilizing | 1.0 | D | 0.644 | neutral | N | 0.480183537 | None | None | N |
| R/T | 0.9935 | likely_pathogenic | 0.9953 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.639 | neutral | N | 0.471454718 | None | None | N |
| R/V | 0.9824 | likely_pathogenic | 0.9884 | pathogenic | -0.11 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| R/W | 0.9437 | likely_pathogenic | 0.9709 | pathogenic | -0.447 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| R/Y | 0.9793 | likely_pathogenic | 0.9894 | pathogenic | -0.104 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | 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.