Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3883 | 11872;11873;11874 | chr2:178741586;178741585;178741584 | chr2:179606313;179606312;179606311 |
| N2AB | 3566 | 10921;10922;10923 | chr2:178741586;178741585;178741584 | chr2:179606313;179606312;179606311 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 3520 | 10783;10784;10785 | chr2:178741586;178741585;178741584 | chr2:179606313;179606312;179606311 |
| Novex-1 | 3645 | 11158;11159;11160 | chr2:178741586;178741585;178741584 | chr2:179606313;179606312;179606311 |
| Novex-2 | 3712 | 11359;11360;11361 | chr2:178741586;178741585;178741584 | chr2:179606313;179606312;179606311 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/R | rs764648076  |
0.108 | 0.001 | N | 0.235 | 0.095 | None | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | I | None | 0 | 1.44986E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/R | rs764648076 |
0.108 | 0.001 | N | 0.235 | 0.095 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | rs764648076 |
0.108 | 0.001 | N | 0.235 | 0.095 | None | gnomAD-4.0.0 | 5.57711E-06 | None | None | None | None | I | None | 1.33469E-05 | 1.16717E-04 | None | 0 | 0 | None | 0 | 0 | 8.47588E-07 | 0 | 0 |
| K/T | rs764648076 |
-0.026 | None | N | 0.116 | 0.137 | None | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| K/T | rs764648076 |
-0.026 | None | N | 0.116 | 0.137 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| K/T | rs764648076 |
-0.026 | None | N | 0.116 | 0.137 | None | gnomAD-4.0.0 | 6.5722E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47007E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.2663 | likely_benign | 0.2509 | benign | -0.298 | Destabilizing | 0.055 | N | 0.321 | neutral | None | None | None | None | I |
| K/C | 0.6944 | likely_pathogenic | 0.6112 | pathogenic | -0.179 | Destabilizing | 0.883 | D | 0.291 | neutral | None | None | None | None | I |
| K/D | 0.4907 | ambiguous | 0.4204 | ambiguous | 0.076 | Stabilizing | 0.22 | N | 0.288 | neutral | None | None | None | None | I |
| K/E | 0.1684 | likely_benign | 0.1488 | benign | 0.161 | Stabilizing | 0.042 | N | 0.277 | neutral | N | 0.484992997 | None | None | I |
| K/F | 0.7493 | likely_pathogenic | 0.6857 | pathogenic | -0.014 | Destabilizing | 0.497 | N | 0.325 | neutral | None | None | None | None | I |
| K/G | 0.3775 | ambiguous | 0.3111 | benign | -0.637 | Destabilizing | 0.001 | N | 0.157 | neutral | None | None | None | None | I |
| K/H | 0.2747 | likely_benign | 0.2533 | benign | -0.936 | Destabilizing | 0.667 | D | 0.251 | neutral | None | None | None | None | I |
| K/I | 0.4093 | ambiguous | 0.3798 | ambiguous | 0.563 | Stabilizing | 0.096 | N | 0.361 | neutral | N | 0.498878966 | None | None | I |
| K/L | 0.3329 | likely_benign | 0.308 | benign | 0.563 | Stabilizing | 0.001 | N | 0.209 | neutral | None | None | None | None | I |
| K/M | 0.2258 | likely_benign | 0.2024 | benign | 0.37 | Stabilizing | 0.497 | N | 0.252 | neutral | None | None | None | None | I |
| K/N | 0.2787 | likely_benign | 0.2358 | benign | -0.039 | Destabilizing | 0.175 | N | 0.205 | neutral | N | 0.496308456 | None | None | I |
| K/P | 0.788 | likely_pathogenic | 0.7491 | pathogenic | 0.307 | Stabilizing | 0.667 | D | 0.327 | neutral | None | None | None | None | I |
| K/Q | 0.1265 | likely_benign | 0.1243 | benign | -0.106 | Destabilizing | 0.003 | N | 0.274 | neutral | N | 0.446984195 | None | None | I |
| K/R | 0.0821 | likely_benign | 0.0799 | benign | -0.39 | Destabilizing | 0.001 | N | 0.235 | neutral | N | 0.469386565 | None | None | I |
| K/S | 0.2745 | likely_benign | 0.2553 | benign | -0.623 | Destabilizing | 0.055 | N | 0.245 | neutral | None | None | None | None | I |
| K/T | 0.1084 | likely_benign | 0.1128 | benign | -0.345 | Destabilizing | None | N | 0.116 | neutral | N | 0.416974229 | None | None | I |
| K/V | 0.3614 | ambiguous | 0.335 | benign | 0.307 | Stabilizing | 0.124 | N | 0.327 | neutral | None | None | None | None | I |
| K/W | 0.8176 | likely_pathogenic | 0.7524 | pathogenic | 0.059 | Stabilizing | 0.958 | D | 0.317 | neutral | None | None | None | None | I |
| K/Y | 0.6133 | likely_pathogenic | 0.5419 | ambiguous | 0.332 | Stabilizing | 0.667 | D | 0.306 | 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.