Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3472 | 10639;10640;10641 | chr2:178757806;178757805;178757804 | chr2:179622533;179622532;179622531 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3426 | 10501;10502;10503 | chr2:178757806;178757805;178757804 | chr2:179622533;179622532;179622531 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/L | None | None | None | None | None | 0.206 | None | gnomAD-4.0.0 | 1.59549E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43852E-05 | 0 |
| S/P | rs1429881262  |
None | None | None | None | 0.091 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/P | rs1429881262 |
None | None | None | None | 0.091 | None | gnomAD-4.0.0 | 2.56784E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.79916E-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 | 0.0987 | likely_benign | None | None | -0.362 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/C | 0.1645 | likely_benign | None | None | -0.316 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/D | 0.4595 | ambiguous | None | None | 0.35 | Stabilizing | None | None | None | None | None | None | None | None | I |
| S/E | 0.4795 | ambiguous | None | None | 0.299 | Stabilizing | None | None | None | None | None | None | None | None | I |
| S/F | 0.2565 | likely_benign | None | None | -0.807 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/G | 0.1479 | likely_benign | None | None | -0.53 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/H | 0.3309 | likely_benign | None | None | -0.954 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/I | 0.2229 | likely_benign | None | None | -0.044 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/K | 0.6287 | likely_pathogenic | None | None | -0.416 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/L | 0.1288 | likely_benign | None | None | -0.044 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/M | 0.2823 | likely_benign | None | None | -0.024 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/N | 0.185 | likely_benign | None | None | -0.22 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/P | 0.3124 | likely_benign | None | None | -0.118 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/Q | 0.4473 | ambiguous | None | None | -0.356 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/R | 0.5239 | ambiguous | None | None | -0.296 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/T | 0.1065 | likely_benign | None | None | -0.286 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/V | 0.2337 | likely_benign | None | None | -0.118 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/W | 0.4597 | ambiguous | None | None | -0.842 | Destabilizing | None | None | None | None | None | None | None | None | I |
| S/Y | 0.2154 | likely_benign | None | None | -0.538 | Destabilizing | None | None | None | None | None | None | None | None | I |
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.