Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29045 | 87358;87359;87360 | chr2:178558221;178558220;178558219 | chr2:179422948;179422947;179422946 |
| N2AB | 27404 | 82435;82436;82437 | chr2:178558221;178558220;178558219 | chr2:179422948;179422947;179422946 |
| N2A | 26477 | 79654;79655;79656 | chr2:178558221;178558220;178558219 | chr2:179422948;179422947;179422946 |
| N2B | 19980 | 60163;60164;60165 | chr2:178558221;178558220;178558219 | chr2:179422948;179422947;179422946 |
| Novex-1 | 20105 | 60538;60539;60540 | chr2:178558221;178558220;178558219 | chr2:179422948;179422947;179422946 |
| Novex-2 | 20172 | 60739;60740;60741 | chr2:178558221;178558220;178558219 | chr2:179422948;179422947;179422946 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | rs1364010226  |
0.108 | 0.989 | N | 0.421 | 0.296 | 0.401327265625 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| D/A | rs1364010226 |
0.108 | 0.989 | N | 0.421 | 0.296 | 0.401327265625 | 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 |
| D/A | rs1364010226 |
0.108 | 0.989 | N | 0.421 | 0.296 | 0.401327265625 | gnomAD-4.0.0 | 6.56892E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46977E-05 | 0 | 0 |
| D/G | rs1364010226 |
-0.217 | 0.978 | N | 0.469 | 0.264 | 0.325263233342 | gnomAD-2.1.1 | 4.16E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.1E-06 | 0 |
| D/G | rs1364010226 |
-0.217 | 0.978 | N | 0.469 | 0.264 | 0.325263233342 | gnomAD-4.0.0 | 1.60851E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86942E-06 | 0 | 0 |
| D/H | rs775369442 |
0.131 | 0.997 | N | 0.477 | 0.296 | 0.366848117066 | gnomAD-2.1.1 | 8.33E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 7.16E-05 | None | 0 | 0 | 0 |
| D/H | rs775369442 |
0.131 | 0.997 | N | 0.477 | 0.296 | 0.366848117066 | gnomAD-4.0.0 | 4.82995E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.46681E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2618 | likely_benign | 0.2617 | benign | -0.233 | Destabilizing | 0.989 | D | 0.421 | neutral | N | 0.500885624 | None | None | I |
| D/C | 0.6291 | likely_pathogenic | 0.6098 | pathogenic | -0.206 | Destabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | I |
| D/E | 0.27 | likely_benign | 0.2771 | benign | -0.394 | Destabilizing | 0.948 | D | 0.433 | neutral | N | 0.498978682 | None | None | I |
| D/F | 0.6785 | likely_pathogenic | 0.6519 | pathogenic | -0.006 | Destabilizing | 0.999 | D | 0.579 | neutral | None | None | None | None | I |
| D/G | 0.4529 | ambiguous | 0.4448 | ambiguous | -0.476 | Destabilizing | 0.978 | D | 0.469 | neutral | N | 0.500885624 | None | None | I |
| D/H | 0.3684 | ambiguous | 0.3243 | benign | 0.109 | Stabilizing | 0.997 | D | 0.477 | neutral | N | 0.501058982 | None | None | I |
| D/I | 0.3206 | likely_benign | 0.3124 | benign | 0.371 | Stabilizing | 0.999 | D | 0.585 | neutral | None | None | None | None | I |
| D/K | 0.6131 | likely_pathogenic | 0.5897 | pathogenic | -0.062 | Destabilizing | 0.983 | D | 0.447 | neutral | None | None | None | None | I |
| D/L | 0.4671 | ambiguous | 0.4538 | ambiguous | 0.371 | Stabilizing | 0.998 | D | 0.583 | neutral | None | None | None | None | I |
| D/M | 0.6383 | likely_pathogenic | 0.6334 | pathogenic | 0.368 | Stabilizing | 1.0 | D | 0.601 | neutral | None | None | None | None | I |
| D/N | 0.0786 | likely_benign | 0.0789 | benign | -0.355 | Destabilizing | 0.198 | N | 0.32 | neutral | N | 0.439026301 | None | None | I |
| D/P | 0.8794 | likely_pathogenic | 0.8631 | pathogenic | 0.193 | Stabilizing | 0.999 | D | 0.473 | neutral | None | None | None | None | I |
| D/Q | 0.4699 | ambiguous | 0.4542 | ambiguous | -0.271 | Destabilizing | 0.998 | D | 0.466 | neutral | None | None | None | None | I |
| D/R | 0.6145 | likely_pathogenic | 0.5787 | pathogenic | 0.219 | Stabilizing | 0.998 | D | 0.52 | neutral | None | None | None | None | I |
| D/S | 0.1558 | likely_benign | 0.151 | benign | -0.493 | Destabilizing | 0.983 | D | 0.436 | neutral | None | None | None | None | I |
| D/T | 0.3562 | ambiguous | 0.3494 | ambiguous | -0.305 | Destabilizing | 0.983 | D | 0.459 | neutral | None | None | None | None | I |
| D/V | 0.2142 | likely_benign | 0.2098 | benign | 0.193 | Stabilizing | 0.999 | D | 0.587 | neutral | N | 0.501752415 | None | None | I |
| D/W | 0.9268 | likely_pathogenic | 0.9113 | pathogenic | 0.117 | Stabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | I |
| D/Y | 0.292 | likely_benign | 0.2602 | benign | 0.212 | Stabilizing | 0.999 | D | 0.579 | neutral | N | 0.502099132 | 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.