Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3709 | 11350;11351;11352 | chr2:178756351;178756350;178756349 | chr2:179621078;179621077;179621076 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | 3538 | 10837;10838;10839 | chr2:178756351;178756350;178756349 | chr2:179621078;179621077;179621076 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/L | None | None | None | None | None | 0.163 | None | gnomAD-4.0.0 | 1.59123E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85809E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1054 | likely_benign | None | None | -0.608 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/C | 0.1112 | likely_benign | None | None | -0.369 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/D | 0.3048 | likely_benign | None | None | -0.014 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/E | 0.3122 | likely_benign | None | None | -0.049 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/F | 0.1416 | likely_benign | None | None | -0.849 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/G | 0.1167 | likely_benign | None | None | -0.825 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/H | 0.2159 | likely_benign | None | None | -1.285 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/I | 0.1246 | likely_benign | None | None | -0.149 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/K | 0.4441 | ambiguous | None | None | -0.662 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/L | 0.1098 | likely_benign | None | None | -0.149 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/M | 0.2065 | likely_benign | None | None | 0.103 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/N | 0.1227 | likely_benign | None | None | -0.481 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/P | 0.6712 | likely_pathogenic | None | None | -0.269 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Q | 0.3294 | likely_benign | None | None | -0.666 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/R | 0.3114 | likely_benign | None | None | -0.498 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/T | 0.0908 | likely_benign | None | None | -0.544 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/V | 0.1643 | likely_benign | None | None | -0.269 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/W | 0.2244 | likely_benign | None | None | -0.82 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Y | 0.1158 | likely_benign | None | None | -0.572 | Destabilizing | None | None | None | None | 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.