Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26769 | 80530;80531;80532 | chr2:178565827;178565826;178565825 | chr2:179430554;179430553;179430552 |
| N2AB | 25128 | 75607;75608;75609 | chr2:178565827;178565826;178565825 | chr2:179430554;179430553;179430552 |
| N2A | 24201 | 72826;72827;72828 | chr2:178565827;178565826;178565825 | chr2:179430554;179430553;179430552 |
| N2B | 17704 | 53335;53336;53337 | chr2:178565827;178565826;178565825 | chr2:179430554;179430553;179430552 |
| Novex-1 | 17829 | 53710;53711;53712 | chr2:178565827;178565826;178565825 | chr2:179430554;179430553;179430552 |
| Novex-2 | 17896 | 53911;53912;53913 | chr2:178565827;178565826;178565825 | chr2:179430554;179430553;179430552 |
| 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 | None | None | None | N | 0.215 | 0.103 | 0.213573922156 | gnomAD-4.0.0 | 1.36854E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79912E-06 | 0 | 0 |
| V/L | None | None | 0.012 | N | 0.493 | 0.07 | 0.225215365344 | gnomAD-4.0.0 | 6.84273E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 0 |
| V/M | rs745315690  |
None | 0.303 | N | 0.54 | 0.067 | 0.28492961333 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs745315690 |
None | 0.303 | N | 0.54 | 0.067 | 0.28492961333 | gnomAD-4.0.0 | 1.2395E-06 | None | None | None | None | I | None | 0 | 1.6675E-05 | None | 0 | 2.22846E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.0772 | likely_benign | 0.0809 | benign | -1.816 | Destabilizing | None | N | 0.215 | neutral | N | 0.36961657 | None | None | I |
| V/C | 0.5042 | ambiguous | 0.5132 | ambiguous | -1.236 | Destabilizing | 0.366 | N | 0.58 | neutral | None | None | None | None | I |
| V/D | 0.4879 | ambiguous | 0.4878 | ambiguous | -2.114 | Highly Destabilizing | 0.221 | N | 0.701 | prob.delet. | None | None | None | None | I |
| V/E | 0.3509 | ambiguous | 0.3562 | ambiguous | -2.017 | Highly Destabilizing | 0.058 | N | 0.551 | neutral | N | 0.515321066 | None | None | I |
| V/F | 0.2285 | likely_benign | 0.2213 | benign | -1.165 | Destabilizing | 0.366 | N | 0.602 | neutral | None | None | None | None | I |
| V/G | 0.1864 | likely_benign | 0.1931 | benign | -2.229 | Highly Destabilizing | 0.03 | N | 0.636 | neutral | N | 0.419698674 | None | None | I |
| V/H | 0.5678 | likely_pathogenic | 0.5713 | pathogenic | -1.905 | Destabilizing | 0.869 | D | 0.771 | deleterious | None | None | None | None | I |
| V/I | 0.0858 | likely_benign | 0.0839 | benign | -0.726 | Destabilizing | 0.016 | N | 0.575 | neutral | None | None | None | None | I |
| V/K | 0.3484 | ambiguous | 0.3667 | ambiguous | -1.668 | Destabilizing | 0.075 | N | 0.545 | neutral | None | None | None | None | I |
| V/L | 0.1956 | likely_benign | 0.2111 | benign | -0.726 | Destabilizing | 0.012 | N | 0.493 | neutral | N | 0.420794752 | None | None | I |
| V/M | 0.1225 | likely_benign | 0.1215 | benign | -0.617 | Destabilizing | 0.303 | N | 0.54 | neutral | N | 0.515841141 | None | None | I |
| V/N | 0.3149 | likely_benign | 0.3131 | benign | -1.642 | Destabilizing | 0.221 | N | 0.709 | prob.delet. | None | None | None | None | I |
| V/P | 0.9134 | likely_pathogenic | 0.9182 | pathogenic | -1.059 | Destabilizing | 0.366 | N | 0.599 | neutral | None | None | None | None | I |
| V/Q | 0.2861 | likely_benign | 0.3015 | benign | -1.68 | Destabilizing | 0.366 | N | 0.62 | neutral | None | None | None | None | I |
| V/R | 0.2896 | likely_benign | 0.3028 | benign | -1.252 | Destabilizing | 0.221 | N | 0.724 | deleterious | None | None | None | None | I |
| V/S | 0.145 | likely_benign | 0.1463 | benign | -2.174 | Highly Destabilizing | 0.016 | N | 0.561 | neutral | None | None | None | None | I |
| V/T | 0.0934 | likely_benign | 0.0945 | benign | -1.967 | Destabilizing | None | N | 0.24 | neutral | None | None | None | None | I |
| V/W | 0.8333 | likely_pathogenic | 0.8338 | pathogenic | -1.554 | Destabilizing | 0.869 | D | 0.801 | deleterious | None | None | None | None | I |
| V/Y | 0.58 | likely_pathogenic | 0.5809 | pathogenic | -1.22 | Destabilizing | 0.366 | N | 0.607 | neutral | None | None | None | None | I |
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.