Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9377 | 28354;28355;28356 | chr2:178711107;178711106;178711105 | chr2:179575834;179575833;179575832 |
| N2AB | 9060 | 27403;27404;27405 | chr2:178711107;178711106;178711105 | chr2:179575834;179575833;179575832 |
| N2A | 8133 | 24622;24623;24624 | chr2:178711107;178711106;178711105 | chr2:179575834;179575833;179575832 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/K | rs72648997  |
-0.397 | 1.0 | None | 0.738 | 0.553 | 0.251639045875 | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | N | None | 3.23123E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/K | rs72648997 |
-0.397 | 1.0 | None | 0.738 | 0.553 | 0.251639045875 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/K | rs72648997 |
-0.397 | 1.0 | None | 0.738 | 0.553 | 0.251639045875 | gnomAD-4.0.0 | 4.95891E-06 | None | None | None | None | N | None | 1.06775E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | None | None | 0.999 | None | 0.603 | 0.585 | 0.286465849087 | gnomAD-4.0.0 | 1.59238E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43493E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9843 | likely_pathogenic | 0.9834 | pathogenic | -0.916 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| N/C | 0.9736 | likely_pathogenic | 0.9722 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| N/D | 0.9641 | likely_pathogenic | 0.9648 | pathogenic | -1.248 | Destabilizing | 0.999 | D | 0.631 | neutral | None | None | None | None | N |
| N/E | 0.9967 | likely_pathogenic | 0.9973 | pathogenic | -1.169 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | None | None | None | None | N |
| N/F | 0.9979 | likely_pathogenic | 0.9981 | pathogenic | -0.931 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| N/G | 0.96 | likely_pathogenic | 0.9562 | pathogenic | -1.201 | Destabilizing | 0.999 | D | 0.579 | neutral | None | None | None | None | N |
| N/H | 0.9342 | likely_pathogenic | 0.9313 | pathogenic | -1.023 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| N/I | 0.9739 | likely_pathogenic | 0.978 | pathogenic | -0.203 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| N/K | 0.9969 | likely_pathogenic | 0.9975 | pathogenic | -0.232 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| N/L | 0.9552 | likely_pathogenic | 0.9563 | pathogenic | -0.203 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| N/M | 0.986 | likely_pathogenic | 0.9859 | pathogenic | 0.336 | Stabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| N/P | 0.9947 | likely_pathogenic | 0.9951 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| N/Q | 0.9958 | likely_pathogenic | 0.9964 | pathogenic | -1.083 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| N/R | 0.9962 | likely_pathogenic | 0.9971 | pathogenic | -0.122 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| N/S | 0.4739 | ambiguous | 0.4396 | ambiguous | -0.893 | Destabilizing | 0.999 | D | 0.603 | neutral | None | None | None | None | N |
| N/T | 0.8466 | likely_pathogenic | 0.8291 | pathogenic | -0.646 | Destabilizing | 0.999 | D | 0.705 | prob.neutral | None | None | None | None | N |
| N/V | 0.9772 | likely_pathogenic | 0.9766 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| N/W | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -0.711 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| N/Y | 0.9836 | likely_pathogenic | 0.9849 | pathogenic | -0.442 | Destabilizing | 1.0 | D | 0.757 | deleterious | 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.