Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6676 | 20251;20252;20253 | chr2:178727339;178727338;178727337 | chr2:179592066;179592065;179592064 |
| N2AB | 6359 | 19300;19301;19302 | chr2:178727339;178727338;178727337 | chr2:179592066;179592065;179592064 |
| N2A | 5432 | 16519;16520;16521 | chr2:178727339;178727338;178727337 | chr2:179592066;179592065;179592064 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| 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/F | rs746565627  |
-0.629 | None | N | 0.224 | 0.325 | 0.486352402194 | gnomAD-2.1.1 | 1.09E-05 | None | None | None | None | N | None | 4.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.58E-05 | 0 |
| S/F | rs746565627 |
-0.629 | None | N | 0.224 | 0.325 | 0.486352402194 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/F | rs746565627 |
-0.629 | None | N | 0.224 | 0.325 | 0.486352402194 | gnomAD-4.0.0 | 1.43138E-05 | None | None | None | None | N | None | 1.34217E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.8704E-05 | 0 | 0 |
| S/Y | rs746565627 |
None | 0.022 | N | 0.511 | 0.259 | 0.466907325337 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/Y | rs746565627 |
None | 0.022 | N | 0.511 | 0.259 | 0.466907325337 | gnomAD-4.0.0 | 2.48935E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.40072E-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 | 0.0903 | likely_benign | 0.0785 | benign | -0.305 | Destabilizing | None | N | 0.072 | neutral | N | 0.520610322 | None | None | N |
| S/C | 0.2415 | likely_benign | 0.2213 | benign | -0.282 | Destabilizing | 0.078 | N | 0.326 | neutral | N | 0.508573659 | None | None | N |
| S/D | 0.6389 | likely_pathogenic | 0.5784 | pathogenic | 0.279 | Stabilizing | 0.015 | N | 0.199 | neutral | None | None | None | None | N |
| S/E | 0.6854 | likely_pathogenic | 0.6001 | pathogenic | 0.205 | Stabilizing | 0.009 | N | 0.201 | neutral | None | None | None | None | N |
| S/F | 0.2647 | likely_benign | 0.1944 | benign | -0.8 | Destabilizing | None | N | 0.224 | neutral | N | 0.519676475 | None | None | N |
| S/G | 0.1186 | likely_benign | 0.1194 | benign | -0.452 | Destabilizing | 0.006 | N | 0.237 | neutral | None | None | None | None | N |
| S/H | 0.5229 | ambiguous | 0.4506 | ambiguous | -0.956 | Destabilizing | 0.56 | D | 0.326 | neutral | None | None | None | None | N |
| S/I | 0.2738 | likely_benign | 0.2217 | benign | -0.049 | Destabilizing | None | N | 0.175 | neutral | None | None | None | None | N |
| S/K | 0.8474 | likely_pathogenic | 0.7749 | pathogenic | -0.443 | Destabilizing | 0.024 | N | 0.205 | neutral | None | None | None | None | N |
| S/L | 0.1286 | likely_benign | 0.1161 | benign | -0.049 | Destabilizing | 0.002 | N | 0.213 | neutral | None | None | None | None | N |
| S/M | 0.244 | likely_benign | 0.2092 | benign | 0.099 | Stabilizing | 0.171 | N | 0.333 | neutral | None | None | None | None | N |
| S/N | 0.2067 | likely_benign | 0.1782 | benign | -0.217 | Destabilizing | 0.002 | N | 0.231 | neutral | None | None | None | None | N |
| S/P | 0.4135 | ambiguous | 0.3594 | ambiguous | -0.103 | Destabilizing | 0.023 | N | 0.423 | neutral | N | 0.51882081 | None | None | N |
| S/Q | 0.6262 | likely_pathogenic | 0.5363 | ambiguous | -0.418 | Destabilizing | 0.106 | N | 0.317 | neutral | None | None | None | None | N |
| S/R | 0.7935 | likely_pathogenic | 0.7225 | pathogenic | -0.291 | Destabilizing | 0.055 | N | 0.455 | neutral | None | None | None | None | N |
| S/T | 0.0768 | likely_benign | 0.0732 | benign | -0.304 | Destabilizing | None | N | 0.057 | neutral | N | 0.467893345 | None | None | N |
| S/V | 0.2158 | likely_benign | 0.1785 | benign | -0.103 | Destabilizing | None | N | 0.14 | neutral | None | None | None | None | N |
| S/W | 0.4389 | ambiguous | 0.3869 | ambiguous | -0.818 | Destabilizing | 0.828 | D | 0.413 | neutral | None | None | None | None | N |
| S/Y | 0.2615 | likely_benign | 0.2071 | benign | -0.525 | Destabilizing | 0.022 | N | 0.511 | neutral | N | 0.490215915 | 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.