Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9664 | 29215;29216;29217 | chr2:178707577;178707576;178707575 | chr2:179572304;179572303;179572302 |
| N2AB | 9347 | 28264;28265;28266 | chr2:178707577;178707576;178707575 | chr2:179572304;179572303;179572302 |
| N2A | 8420 | 25483;25484;25485 | chr2:178707577;178707576;178707575 | chr2:179572304;179572303;179572302 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs1484358096  |
None | 1.0 | None | 0.883 | 0.757 | 0.739669447282 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9494 | likely_pathogenic | 0.9453 | pathogenic | -1.682 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| A/D | 0.9966 | likely_pathogenic | 0.9971 | pathogenic | -2.782 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| A/E | 0.9933 | likely_pathogenic | 0.9951 | pathogenic | -2.62 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/F | 0.9758 | likely_pathogenic | 0.9765 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| A/G | 0.4343 | ambiguous | 0.3776 | ambiguous | -1.746 | Destabilizing | 1.0 | D | 0.555 | neutral | None | None | None | None | N |
| A/H | 0.998 | likely_pathogenic | 0.9982 | pathogenic | -1.953 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| A/I | 0.8014 | likely_pathogenic | 0.8462 | pathogenic | -0.185 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| A/K | 0.9986 | likely_pathogenic | 0.999 | pathogenic | -1.405 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/L | 0.8287 | likely_pathogenic | 0.8129 | pathogenic | -0.185 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| A/M | 0.9284 | likely_pathogenic | 0.9301 | pathogenic | -0.562 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| A/N | 0.9938 | likely_pathogenic | 0.9941 | pathogenic | -1.711 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| A/P | 0.9934 | likely_pathogenic | 0.9943 | pathogenic | -0.522 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| A/Q | 0.9922 | likely_pathogenic | 0.9937 | pathogenic | -1.606 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| A/R | 0.994 | likely_pathogenic | 0.9953 | pathogenic | -1.355 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| A/S | 0.5408 | ambiguous | 0.5166 | ambiguous | -2.091 | Highly Destabilizing | 1.0 | D | 0.553 | neutral | None | None | None | None | N |
| A/T | 0.7443 | likely_pathogenic | 0.724 | pathogenic | -1.816 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| A/V | 0.5196 | ambiguous | 0.5261 | ambiguous | -0.522 | Destabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| A/W | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -1.567 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/Y | 0.9939 | likely_pathogenic | 0.9947 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.901 | 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.