Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3705 | 11338;11339;11340 | chr2:178756363;178756362;178756361 | chr2:179621090;179621089;179621088 |
| 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 | 3534 | 10825;10826;10827 | chr2:178756363;178756362;178756361 | chr2:179621090;179621089;179621088 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/K | rs2086934731  |
None | None | None | None | 0.074 | None | gnomAD-4.0.0 | 6.84195E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99442E-07 | 0 | 0 |
| R/T | None | None | None | None | None | 0.151 | None | gnomAD-4.0.0 | 6.84195E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15937E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.4886 | ambiguous | None | None | -0.852 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/C | 0.2109 | likely_benign | None | None | -0.713 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/D | 0.607 | likely_pathogenic | None | None | -0.12 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/E | 0.3584 | ambiguous | None | None | 0.007 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/F | 0.5363 | ambiguous | None | None | -0.732 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/G | 0.2862 | likely_benign | None | None | -1.171 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/H | 0.132 | likely_benign | None | None | -1.532 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/I | 0.242 | likely_benign | None | None | 0.007 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/K | 0.1528 | likely_benign | None | None | -0.846 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/L | 0.2569 | likely_benign | None | None | 0.007 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/M | 0.3118 | likely_benign | None | None | -0.244 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/N | 0.4938 | ambiguous | None | None | -0.309 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/P | 0.7411 | likely_pathogenic | None | None | -0.258 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/Q | 0.1356 | likely_benign | None | None | -0.47 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/S | 0.5285 | ambiguous | None | None | -1.078 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/T | 0.2953 | likely_benign | None | None | -0.766 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/V | 0.3949 | ambiguous | None | None | -0.258 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/W | 0.211 | likely_benign | None | None | -0.398 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/Y | 0.3485 | ambiguous | None | None | -0.093 | 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.