Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21894 | 65905;65906;65907 | chr2:178583123;178583122;178583121 | chr2:179447850;179447849;179447848 |
| N2AB | 20253 | 60982;60983;60984 | chr2:178583123;178583122;178583121 | chr2:179447850;179447849;179447848 |
| N2A | 19326 | 58201;58202;58203 | chr2:178583123;178583122;178583121 | chr2:179447850;179447849;179447848 |
| N2B | 12829 | 38710;38711;38712 | chr2:178583123;178583122;178583121 | chr2:179447850;179447849;179447848 |
| Novex-1 | 12954 | 39085;39086;39087 | chr2:178583123;178583122;178583121 | chr2:179447850;179447849;179447848 |
| Novex-2 | 13021 | 39286;39287;39288 | chr2:178583123;178583122;178583121 | chr2:179447850;179447849;179447848 |
| 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/A | None | None | 0.002 | N | 0.144 | 0.142 | 0.21279746466 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| T/I | rs761924206  |
0.12 | 0.81 | N | 0.631 | 0.26 | 0.376039117802 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.13701E-04 | None | 3.29E-05 | None | 0 | 0 | 0 |
| T/I | rs761924206 |
0.12 | 0.81 | N | 0.631 | 0.26 | 0.376039117802 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94553E-04 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| T/I | rs761924206 |
0.12 | 0.81 | N | 0.631 | 0.26 | 0.376039117802 | gnomAD-4.0.0 | 6.8238E-06 | None | None | None | None | N | None | 0 | 0 | None | 3.38249E-05 | 4.49156E-05 | None | 1.56416E-05 | 0 | 2.54468E-06 | 4.40131E-05 | 0 |
| T/R | None | None | 0.016 | N | 0.293 | 0.341 | 0.396794106654 | gnomAD-4.0.0 | 6.84972E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00118E-07 | 0 | 0 |
| T/S | None | None | 0.016 | N | 0.161 | 0.115 | 0.181679512989 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.0665 | likely_benign | 0.066 | benign | -0.387 | Destabilizing | 0.002 | N | 0.144 | neutral | N | 0.4834388 | None | None | N |
| T/C | 0.3937 | ambiguous | 0.3493 | ambiguous | -0.286 | Destabilizing | 0.992 | D | 0.563 | neutral | None | None | None | None | N |
| T/D | 0.3313 | likely_benign | 0.3212 | benign | -0.031 | Destabilizing | 0.617 | D | 0.541 | neutral | None | None | None | None | N |
| T/E | 0.2222 | likely_benign | 0.2174 | benign | -0.099 | Destabilizing | 0.447 | N | 0.554 | neutral | None | None | None | None | N |
| T/F | 0.2473 | likely_benign | 0.2223 | benign | -0.794 | Destabilizing | 0.92 | D | 0.599 | neutral | None | None | None | None | N |
| T/G | 0.2274 | likely_benign | 0.2158 | benign | -0.54 | Destabilizing | 0.25 | N | 0.534 | neutral | None | None | None | None | N |
| T/H | 0.1941 | likely_benign | 0.1829 | benign | -0.816 | Destabilizing | 0.92 | D | 0.577 | neutral | None | None | None | None | N |
| T/I | 0.1211 | likely_benign | 0.1158 | benign | -0.1 | Destabilizing | 0.81 | D | 0.631 | neutral | N | 0.491674282 | None | None | N |
| T/K | 0.1119 | likely_benign | 0.1108 | benign | -0.509 | Destabilizing | 0.002 | N | 0.208 | neutral | N | 0.427814804 | None | None | N |
| T/L | 0.0893 | likely_benign | 0.084 | benign | -0.1 | Destabilizing | 0.617 | D | 0.552 | neutral | None | None | None | None | N |
| T/M | 0.0908 | likely_benign | 0.088 | benign | 0.039 | Stabilizing | 0.972 | D | 0.595 | neutral | None | None | None | None | N |
| T/N | 0.1174 | likely_benign | 0.1122 | benign | -0.269 | Destabilizing | 0.617 | D | 0.455 | neutral | None | None | None | None | N |
| T/P | 0.3288 | likely_benign | 0.3032 | benign | -0.166 | Destabilizing | 0.712 | D | 0.616 | neutral | N | 0.495140212 | None | None | N |
| T/Q | 0.1545 | likely_benign | 0.1538 | benign | -0.496 | Destabilizing | 0.447 | N | 0.613 | neutral | None | None | None | None | N |
| T/R | 0.1136 | likely_benign | 0.1079 | benign | -0.198 | Destabilizing | 0.016 | N | 0.293 | neutral | N | 0.459465863 | None | None | N |
| T/S | 0.0979 | likely_benign | 0.0921 | benign | -0.458 | Destabilizing | 0.016 | N | 0.161 | neutral | N | 0.462156664 | None | None | N |
| T/V | 0.0912 | likely_benign | 0.0902 | benign | -0.166 | Destabilizing | 0.447 | N | 0.479 | neutral | None | None | None | None | N |
| T/W | 0.619 | likely_pathogenic | 0.5845 | pathogenic | -0.803 | Destabilizing | 0.992 | D | 0.592 | neutral | None | None | None | None | N |
| T/Y | 0.2745 | likely_benign | 0.252 | benign | -0.535 | Destabilizing | 0.972 | D | 0.602 | 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.