Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3712 | 11359;11360;11361 | chr2:178756342;178756341;178756340 | chr2:179621069;179621068;179621067 |
| 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 | 3541 | 10846;10847;10848 | chr2:178756342;178756341;178756340 | chr2:179621069;179621068;179621067 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | None | None | None | None | None | 0.228 | None | gnomAD-4.0.0 | 3.1824E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71621E-06 | 0 | 0 |
| G/R | None | None | None | None | None | 0.242 | None | gnomAD-4.0.0 | 6.842E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52003E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2071 | likely_benign | None | None | -0.388 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/C | 0.2711 | likely_benign | None | None | -0.839 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/D | 0.1292 | likely_benign | None | None | -0.95 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/E | 0.1443 | likely_benign | None | None | -1.121 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/F | 0.6771 | likely_pathogenic | None | None | -1.148 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/H | 0.3042 | likely_benign | None | None | -0.645 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/I | 0.4227 | ambiguous | None | None | -0.52 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/K | 0.2314 | likely_benign | None | None | -0.968 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/L | 0.5345 | ambiguous | None | None | -0.52 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/M | 0.5635 | ambiguous | None | None | -0.439 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/N | 0.2208 | likely_benign | None | None | -0.552 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/P | 0.8076 | likely_pathogenic | None | None | -0.443 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/Q | 0.2076 | likely_benign | None | None | -0.895 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/R | 0.152 | likely_benign | None | None | -0.429 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/S | 0.1145 | likely_benign | None | None | -0.648 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/T | 0.2708 | likely_benign | None | None | -0.761 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/V | 0.3305 | likely_benign | None | None | -0.443 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/W | 0.3801 | ambiguous | None | None | -1.291 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/Y | 0.4206 | ambiguous | None | None | -0.956 | 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.