Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3690 | 11293;11294;11295 | chr2:178756408;178756407;178756406 | chr2:179621135;179621134;179621133 |
| 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 | 3519 | 10780;10781;10782 | chr2:178756408;178756407;178756406 | chr2:179621135;179621134;179621133 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/V | rs1574368049  |
None | None | None | None | 0.143 | None | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| D/Y | rs972676424 |
None | None | None | None | 0.047 | None | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1536 | likely_benign | None | None | -0.265 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/C | 0.4959 | ambiguous | None | None | -0.097 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/E | 0.1822 | likely_benign | None | None | -0.377 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/F | 0.5925 | likely_pathogenic | None | None | -0.18 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/G | 0.1478 | likely_benign | None | None | -0.478 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/H | 0.1841 | likely_benign | None | None | -0.049 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/I | 0.3979 | ambiguous | None | None | 0.252 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/K | 0.2656 | likely_benign | None | None | 0.064 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/L | 0.3831 | ambiguous | None | None | 0.252 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/M | 0.6413 | likely_pathogenic | None | None | 0.309 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/N | 0.0948 | likely_benign | None | None | -0.171 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/P | 0.5824 | likely_pathogenic | None | None | 0.102 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/Q | 0.2868 | likely_benign | None | None | -0.124 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/R | 0.2599 | likely_benign | None | None | 0.288 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/S | 0.1103 | likely_benign | None | None | -0.298 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/T | 0.2192 | likely_benign | None | None | -0.139 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/V | 0.242 | likely_benign | None | None | 0.102 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/W | 0.8572 | likely_pathogenic | None | None | -0.071 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/Y | 0.2168 | likely_benign | None | None | 0.039 | Stabilizing | 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.