Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3551 | 10876;10877;10878 | chr2:178757569;178757568;178757567 | chr2:179622296;179622295;179622294 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3505 | 10738;10739;10740 | chr2:178757569;178757568;178757567 | chr2:179622296;179622295;179622294 |
| 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/V | rs2154335907  |
None | None | None | None | 0.168 | None | gnomAD-4.0.0 | 1.64654E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.96746E-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 | 0.5601 | ambiguous | None | None | -0.785 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/D | 0.3142 | likely_benign | None | None | -0.731 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/E | 0.2263 | likely_benign | None | None | -0.873 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/F | 0.3091 | likely_benign | None | None | -1.149 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/G | 0.2111 | likely_benign | None | None | -0.647 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/H | 0.4289 | ambiguous | None | None | -0.733 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/I | 0.2285 | likely_benign | None | None | -0.487 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/K | 0.4018 | ambiguous | None | None | -0.758 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/L | 0.187 | likely_benign | None | None | -0.487 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/M | 0.2125 | likely_benign | None | None | -0.343 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/N | 0.267 | likely_benign | None | None | -0.405 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/P | 0.515 | ambiguous | None | None | -0.473 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Q | 0.2935 | likely_benign | None | None | -0.727 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/R | 0.3164 | likely_benign | None | None | -0.293 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/S | 0.0941 | likely_benign | None | None | -0.64 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/T | 0.0786 | likely_benign | None | None | -0.707 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/V | 0.1311 | likely_benign | None | None | -0.473 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/W | 0.7642 | likely_pathogenic | None | None | -1.289 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Y | 0.4847 | ambiguous | None | None | -0.928 | 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.