Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9325 | 28198;28199;28200 | chr2:178711263;178711262;178711261 | chr2:179575990;179575989;179575988 |
| N2AB | 9008 | 27247;27248;27249 | chr2:178711263;178711262;178711261 | chr2:179575990;179575989;179575988 |
| N2A | 8081 | 24466;24467;24468 | chr2:178711263;178711262;178711261 | chr2:179575990;179575989;179575988 |
| 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/G | None | None | 0.003 | None | 0.163 | 0.142 | 0.0846915920261 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| S/N | rs1454560282  |
None | None | None | 0.046 | 0.171 | 0.0297737177859 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs1454560282 |
None | None | None | 0.046 | 0.171 | 0.0297737177859 | gnomAD-4.0.0 | 6.57315E-06 | None | None | None | None | N | None | 0 | 6.54879E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | rs1284567095 |
None | None | None | 0.172 | 0.122 | 0.245660935333 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | rs1284567095 |
None | None | None | 0.172 | 0.122 | 0.245660935333 | gnomAD-4.0.0 | 6.57065E-06 | None | None | None | None | N | None | 2.41266E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/T | rs1454560282 |
0.089 | None | None | 0.043 | 0.125 | 0.0297737177859 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 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 | 0.0802 | likely_benign | 0.0918 | benign | -0.468 | Destabilizing | None | N | 0.041 | neutral | None | None | None | None | N |
| S/C | 0.1621 | likely_benign | 0.1948 | benign | -0.262 | Destabilizing | 0.427 | N | 0.264 | neutral | None | None | None | None | N |
| S/D | 0.2697 | likely_benign | 0.331 | benign | 0.417 | Stabilizing | 0.009 | N | 0.192 | neutral | None | None | None | None | N |
| S/E | 0.3389 | likely_benign | 0.4299 | ambiguous | 0.34 | Stabilizing | 0.009 | N | 0.197 | neutral | None | None | None | None | N |
| S/F | 0.1504 | likely_benign | 0.1777 | benign | -1.087 | Destabilizing | 0.138 | N | 0.427 | neutral | None | None | None | None | N |
| S/G | 0.0959 | likely_benign | 0.1123 | benign | -0.589 | Destabilizing | 0.003 | N | 0.163 | neutral | None | None | None | None | N |
| S/H | 0.1807 | likely_benign | 0.1783 | benign | -1.138 | Destabilizing | None | N | 0.169 | neutral | None | None | None | None | N |
| S/I | 0.1154 | likely_benign | 0.1439 | benign | -0.277 | Destabilizing | 0.017 | N | 0.363 | neutral | None | None | None | None | N |
| S/K | 0.3121 | likely_benign | 0.3978 | ambiguous | -0.288 | Destabilizing | 0.009 | N | 0.192 | neutral | None | None | None | None | N |
| S/L | 0.096 | likely_benign | 0.1138 | benign | -0.277 | Destabilizing | 0.009 | N | 0.251 | neutral | None | None | None | None | N |
| S/M | 0.1764 | likely_benign | 0.1952 | benign | -0.005 | Destabilizing | 0.245 | N | 0.27 | neutral | None | None | None | None | N |
| S/N | 0.0903 | likely_benign | 0.1045 | benign | -0.069 | Destabilizing | None | N | 0.046 | neutral | None | None | None | None | N |
| S/P | 0.6439 | likely_pathogenic | 0.7623 | pathogenic | -0.312 | Destabilizing | 0.085 | N | 0.331 | neutral | None | None | None | None | N |
| S/Q | 0.2879 | likely_benign | 0.329 | benign | -0.28 | Destabilizing | 0.044 | N | 0.21 | neutral | None | None | None | None | N |
| S/R | 0.2273 | likely_benign | 0.2934 | benign | -0.182 | Destabilizing | None | N | 0.172 | neutral | None | None | None | None | N |
| S/T | 0.067 | likely_benign | 0.075 | benign | -0.19 | Destabilizing | None | N | 0.043 | neutral | None | None | None | None | N |
| S/V | 0.1446 | likely_benign | 0.1745 | benign | -0.312 | Destabilizing | None | N | 0.207 | neutral | None | None | None | None | N |
| S/W | 0.2797 | likely_benign | 0.342 | ambiguous | -1.073 | Destabilizing | 0.788 | D | 0.359 | neutral | None | None | None | None | N |
| S/Y | 0.1397 | likely_benign | 0.1571 | benign | -0.777 | Destabilizing | 0.022 | N | 0.441 | 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.