Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18650 | 56173;56174;56175 | chr2:178600956;178600955;178600954 | chr2:179465683;179465682;179465681 |
| N2AB | 17009 | 51250;51251;51252 | chr2:178600956;178600955;178600954 | chr2:179465683;179465682;179465681 |
| N2A | 16082 | 48469;48470;48471 | chr2:178600956;178600955;178600954 | chr2:179465683;179465682;179465681 |
| N2B | 9585 | 28978;28979;28980 | chr2:178600956;178600955;178600954 | chr2:179465683;179465682;179465681 |
| Novex-1 | 9710 | 29353;29354;29355 | chr2:178600956;178600955;178600954 | chr2:179465683;179465682;179465681 |
| Novex-2 | 9777 | 29554;29555;29556 | chr2:178600956;178600955;178600954 | chr2:179465683;179465682;179465681 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1459999072  |
None | 0.005 | N | 0.219 | 0.052 | 0.124217242631 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/A | rs1459999072 |
None | 0.005 | N | 0.219 | 0.052 | 0.124217242631 | gnomAD-4.0.0 | 1.24003E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23454E-05 | None | 0 | 0 | 8.47952E-07 | 0 | 0 |
| V/E | rs1459999072 |
None | 0.012 | N | 0.319 | 0.06 | 0.180583059064 | gnomAD-4.0.0 | 6.84505E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65722E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.0833 | likely_benign | 0.079 | benign | -0.712 | Destabilizing | 0.005 | N | 0.219 | neutral | N | 0.458566493 | None | None | N |
| V/C | 0.4755 | ambiguous | 0.4511 | ambiguous | -0.858 | Destabilizing | 0.356 | N | 0.373 | neutral | None | None | None | None | N |
| V/D | 0.1631 | likely_benign | 0.1585 | benign | -0.142 | Destabilizing | 0.038 | N | 0.413 | neutral | None | None | None | None | N |
| V/E | 0.1098 | likely_benign | 0.1113 | benign | -0.19 | Destabilizing | 0.012 | N | 0.319 | neutral | N | 0.436092279 | None | None | N |
| V/F | 0.1229 | likely_benign | 0.1135 | benign | -0.61 | Destabilizing | 0.214 | N | 0.444 | neutral | None | None | None | None | N |
| V/G | 0.122 | likely_benign | 0.1156 | benign | -0.913 | Destabilizing | 0.024 | N | 0.348 | neutral | N | 0.516537362 | None | None | N |
| V/H | 0.2217 | likely_benign | 0.2027 | benign | -0.219 | Destabilizing | 0.356 | N | 0.45 | neutral | None | None | None | None | N |
| V/I | 0.0694 | likely_benign | 0.0679 | benign | -0.304 | Destabilizing | None | N | 0.092 | neutral | N | 0.429630453 | None | None | N |
| V/K | 0.0927 | likely_benign | 0.0945 | benign | -0.55 | Destabilizing | None | N | 0.085 | neutral | None | None | None | None | N |
| V/L | 0.093 | likely_benign | 0.091 | benign | -0.304 | Destabilizing | 0.002 | N | 0.206 | neutral | N | 0.449061576 | None | None | N |
| V/M | 0.0962 | likely_benign | 0.0946 | benign | -0.542 | Destabilizing | 0.214 | N | 0.337 | neutral | None | None | None | None | N |
| V/N | 0.1055 | likely_benign | 0.1013 | benign | -0.461 | Destabilizing | 0.001 | N | 0.207 | neutral | None | None | None | None | N |
| V/P | 0.236 | likely_benign | 0.2216 | benign | -0.405 | Destabilizing | 0.136 | N | 0.452 | neutral | None | None | None | None | N |
| V/Q | 0.1094 | likely_benign | 0.1086 | benign | -0.597 | Destabilizing | 0.003 | N | 0.192 | neutral | None | None | None | None | N |
| V/R | 0.0954 | likely_benign | 0.0951 | benign | -0.075 | Destabilizing | 0.038 | N | 0.416 | neutral | None | None | None | None | N |
| V/S | 0.0933 | likely_benign | 0.0859 | benign | -0.937 | Destabilizing | 0.016 | N | 0.315 | neutral | None | None | None | None | N |
| V/T | 0.0751 | likely_benign | 0.0698 | benign | -0.866 | Destabilizing | None | N | 0.123 | neutral | None | None | None | None | N |
| V/W | 0.5286 | ambiguous | 0.4975 | ambiguous | -0.692 | Destabilizing | 0.864 | D | 0.435 | neutral | None | None | None | None | N |
| V/Y | 0.3135 | likely_benign | 0.293 | benign | -0.406 | Destabilizing | 0.356 | N | 0.44 | neutral | 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.