Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15766 | 47521;47522;47523 | chr2:178618055;178618054;178618053 | chr2:179482782;179482781;179482780 |
| N2AB | 14125 | 42598;42599;42600 | chr2:178618055;178618054;178618053 | chr2:179482782;179482781;179482780 |
| N2A | 13198 | 39817;39818;39819 | chr2:178618055;178618054;178618053 | chr2:179482782;179482781;179482780 |
| N2B | 6701 | 20326;20327;20328 | chr2:178618055;178618054;178618053 | chr2:179482782;179482781;179482780 |
| Novex-1 | 6826 | 20701;20702;20703 | chr2:178618055;178618054;178618053 | chr2:179482782;179482781;179482780 |
| Novex-2 | 6893 | 20902;20903;20904 | chr2:178618055;178618054;178618053 | chr2:179482782;179482781;179482780 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | None | None | None | N | 0.167 | 0.097 | 0.247872288689 | gnomAD-4.0.0 | 1.59446E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86311E-06 | 0 | 0 |
| T/N | rs773613340  |
-0.233 | 0.017 | N | 0.326 | 0.099 | 0.251639045875 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| T/N | rs773613340 |
-0.233 | 0.017 | N | 0.326 | 0.099 | 0.251639045875 | gnomAD-4.0.0 | 3.18892E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72623E-06 | 0 | 0 |
| T/S | rs878854312 |
None | 0.003 | N | 0.271 | 0.084 | 0.184867976434 | 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 |
| T/S | rs878854312 |
None | 0.003 | N | 0.271 | 0.084 | 0.184867976434 | gnomAD-4.0.0 | 2.5671E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.79425E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0649 | likely_benign | 0.0675 | benign | -0.653 | Destabilizing | None | N | 0.069 | neutral | N | 0.476907025 | None | None | N |
| T/C | 0.2851 | likely_benign | 0.2719 | benign | -0.387 | Destabilizing | 0.245 | N | 0.473 | neutral | None | None | None | None | N |
| T/D | 0.1946 | likely_benign | 0.2042 | benign | 0.189 | Stabilizing | None | N | 0.194 | neutral | None | None | None | None | N |
| T/E | 0.1238 | likely_benign | 0.1397 | benign | 0.17 | Stabilizing | None | N | 0.199 | neutral | None | None | None | None | N |
| T/F | 0.1918 | likely_benign | 0.1821 | benign | -0.858 | Destabilizing | 0.044 | N | 0.596 | neutral | None | None | None | None | N |
| T/G | 0.1573 | likely_benign | 0.1613 | benign | -0.878 | Destabilizing | 0.009 | N | 0.333 | neutral | None | None | None | None | N |
| T/H | 0.1608 | likely_benign | 0.1586 | benign | -1.198 | Destabilizing | 0.245 | N | 0.5 | neutral | None | None | None | None | N |
| T/I | 0.1152 | likely_benign | 0.1148 | benign | -0.159 | Destabilizing | None | N | 0.167 | neutral | N | 0.455485838 | None | None | N |
| T/K | 0.1079 | likely_benign | 0.1108 | benign | -0.52 | Destabilizing | 0.009 | N | 0.383 | neutral | None | None | None | None | N |
| T/L | 0.0954 | likely_benign | 0.0906 | benign | -0.159 | Destabilizing | None | N | 0.166 | neutral | None | None | None | None | N |
| T/M | 0.0852 | likely_benign | 0.087 | benign | 0.036 | Stabilizing | 0.138 | N | 0.505 | neutral | None | None | None | None | N |
| T/N | 0.0828 | likely_benign | 0.0847 | benign | -0.411 | Destabilizing | 0.017 | N | 0.326 | neutral | N | 0.486201469 | None | None | N |
| T/P | 0.4293 | ambiguous | 0.4847 | ambiguous | -0.291 | Destabilizing | 0.033 | N | 0.485 | neutral | N | 0.509573105 | None | None | N |
| T/Q | 0.1124 | likely_benign | 0.1167 | benign | -0.565 | Destabilizing | 0.001 | N | 0.293 | neutral | None | None | None | None | N |
| T/R | 0.1008 | likely_benign | 0.1039 | benign | -0.339 | Destabilizing | 0.022 | N | 0.488 | neutral | None | None | None | None | N |
| T/S | 0.0813 | likely_benign | 0.0845 | benign | -0.698 | Destabilizing | 0.003 | N | 0.271 | neutral | N | 0.471078961 | None | None | N |
| T/V | 0.0975 | likely_benign | 0.0962 | benign | -0.291 | Destabilizing | None | N | 0.086 | neutral | None | None | None | None | N |
| T/W | 0.5004 | ambiguous | 0.4865 | ambiguous | -0.808 | Destabilizing | 0.788 | D | 0.509 | neutral | None | None | None | None | N |
| T/Y | 0.2289 | likely_benign | 0.2147 | benign | -0.555 | Destabilizing | 0.245 | N | 0.611 | 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.