Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17031 | 51316;51317;51318 | chr2:178611038;178611037;178611036 | chr2:179475765;179475764;179475763 |
| N2AB | 15390 | 46393;46394;46395 | chr2:178611038;178611037;178611036 | chr2:179475765;179475764;179475763 |
| N2A | 14463 | 43612;43613;43614 | chr2:178611038;178611037;178611036 | chr2:179475765;179475764;179475763 |
| N2B | 7966 | 24121;24122;24123 | chr2:178611038;178611037;178611036 | chr2:179475765;179475764;179475763 |
| Novex-1 | 8091 | 24496;24497;24498 | chr2:178611038;178611037;178611036 | chr2:179475765;179475764;179475763 |
| Novex-2 | 8158 | 24697;24698;24699 | chr2:178611038;178611037;178611036 | chr2:179475765;179475764;179475763 |
| 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 | rs886044006  |
None | 0.999 | D | 0.638 | 0.685 | 0.380394304726 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| N/K | None | None | 1.0 | D | 0.748 | 0.518 | 0.255777322467 | gnomAD-4.0.0 | 6.8467E-07 | None | None | None | None | I | None | 0 | 0 | None | 3.83289E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs749251609 |
-1.002 | 0.999 | D | 0.597 | 0.588 | 0.253205268125 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| N/S | rs749251609 |
-1.002 | 0.999 | D | 0.597 | 0.588 | 0.253205268125 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/S | rs749251609 |
-1.002 | 0.999 | D | 0.597 | 0.588 | 0.253205268125 | gnomAD-4.0.0 | 3.8488E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19059E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9907 | likely_pathogenic | 0.9938 | pathogenic | -0.739 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | I |
| N/C | 0.9438 | likely_pathogenic | 0.9527 | pathogenic | -0.153 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| N/D | 0.9377 | likely_pathogenic | 0.954 | pathogenic | -1.442 | Destabilizing | 0.999 | D | 0.638 | neutral | D | 0.703607523 | None | None | I |
| N/E | 0.9927 | likely_pathogenic | 0.9935 | pathogenic | -1.328 | Destabilizing | 0.999 | D | 0.734 | prob.delet. | None | None | None | None | I |
| N/F | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -0.568 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| N/G | 0.9579 | likely_pathogenic | 0.9641 | pathogenic | -1.077 | Destabilizing | 0.999 | D | 0.576 | neutral | None | None | None | None | I |
| N/H | 0.9543 | likely_pathogenic | 0.9619 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.7059942 | None | None | I |
| N/I | 0.9931 | likely_pathogenic | 0.9951 | pathogenic | 0.122 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.655880595 | None | None | I |
| N/K | 0.9968 | likely_pathogenic | 0.997 | pathogenic | -0.318 | Destabilizing | 1.0 | D | 0.748 | deleterious | D | 0.741064054 | None | None | I |
| N/L | 0.9845 | likely_pathogenic | 0.9865 | pathogenic | 0.122 | Stabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | I |
| N/M | 0.9866 | likely_pathogenic | 0.9894 | pathogenic | 0.61 | Stabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| N/P | 0.9984 | likely_pathogenic | 0.9982 | pathogenic | -0.135 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | I |
| N/Q | 0.9943 | likely_pathogenic | 0.9951 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| N/R | 0.9969 | likely_pathogenic | 0.9971 | pathogenic | -0.318 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | I |
| N/S | 0.7347 | likely_pathogenic | 0.7784 | pathogenic | -0.991 | Destabilizing | 0.999 | D | 0.597 | neutral | D | 0.577593981 | None | None | I |
| N/T | 0.9107 | likely_pathogenic | 0.9305 | pathogenic | -0.704 | Destabilizing | 0.999 | D | 0.725 | prob.delet. | D | 0.703712794 | None | None | I |
| N/V | 0.9899 | likely_pathogenic | 0.9928 | pathogenic | -0.135 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | I |
| N/W | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | I |
| N/Y | 0.9854 | likely_pathogenic | 0.9881 | pathogenic | -0.122 | Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.741965194 | 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.