Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21288 | 64087;64088;64089 | chr2:178587349;178587348;178587347 | chr2:179452076;179452075;179452074 |
| N2AB | 19647 | 59164;59165;59166 | chr2:178587349;178587348;178587347 | chr2:179452076;179452075;179452074 |
| N2A | 18720 | 56383;56384;56385 | chr2:178587349;178587348;178587347 | chr2:179452076;179452075;179452074 |
| N2B | 12223 | 36892;36893;36894 | chr2:178587349;178587348;178587347 | chr2:179452076;179452075;179452074 |
| Novex-1 | 12348 | 37267;37268;37269 | chr2:178587349;178587348;178587347 | chr2:179452076;179452075;179452074 |
| Novex-2 | 12415 | 37468;37469;37470 | chr2:178587349;178587348;178587347 | chr2:179452076;179452075;179452074 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | rs2049247544  |
None | 0.062 | N | 0.539 | 0.078 | 0.268660756437 | gnomAD-4.0.0 | 2.05421E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69946E-06 | 0 | 0 |
| A/V | rs2049247544 |
None | None | N | 0.249 | 0.083 | 0.232513804876 | gnomAD-4.0.0 | 6.84736E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99819E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.2498 | likely_benign | 0.2751 | benign | -0.995 | Destabilizing | 0.824 | D | 0.445 | neutral | None | None | None | None | N |
| A/D | 0.1866 | likely_benign | 0.2145 | benign | -1.541 | Destabilizing | 0.062 | N | 0.539 | neutral | N | 0.398710113 | None | None | N |
| A/E | 0.1582 | likely_benign | 0.1787 | benign | -1.532 | Destabilizing | 0.081 | N | 0.46 | neutral | None | None | None | None | N |
| A/F | 0.1724 | likely_benign | 0.2015 | benign | -1.052 | Destabilizing | 0.38 | N | 0.541 | neutral | None | None | None | None | N |
| A/G | 0.094 | likely_benign | 0.1017 | benign | -1.278 | Destabilizing | None | N | 0.118 | neutral | N | 0.46778341 | None | None | N |
| A/H | 0.2613 | likely_benign | 0.2918 | benign | -1.552 | Destabilizing | 0.824 | D | 0.513 | neutral | None | None | None | None | N |
| A/I | 0.0973 | likely_benign | 0.1231 | benign | -0.278 | Destabilizing | 0.029 | N | 0.417 | neutral | None | None | None | None | N |
| A/K | 0.2592 | likely_benign | 0.2878 | benign | -1.317 | Destabilizing | 0.081 | N | 0.463 | neutral | None | None | None | None | N |
| A/L | 0.0739 | likely_benign | 0.083 | benign | -0.278 | Destabilizing | None | N | 0.182 | neutral | None | None | None | None | N |
| A/M | 0.0912 | likely_benign | 0.1082 | benign | -0.224 | Destabilizing | 0.38 | N | 0.459 | neutral | None | None | None | None | N |
| A/N | 0.117 | likely_benign | 0.1351 | benign | -1.143 | Destabilizing | 0.235 | N | 0.549 | neutral | None | None | None | None | N |
| A/P | 0.5293 | ambiguous | 0.6232 | pathogenic | -0.466 | Destabilizing | 0.317 | N | 0.493 | neutral | N | 0.503338778 | None | None | N |
| A/Q | 0.1828 | likely_benign | 0.2009 | benign | -1.246 | Destabilizing | 0.38 | N | 0.479 | neutral | None | None | None | None | N |
| A/R | 0.2783 | likely_benign | 0.3038 | benign | -1.012 | Destabilizing | 0.38 | N | 0.485 | neutral | None | None | None | None | N |
| A/S | 0.0719 | likely_benign | 0.0731 | benign | -1.487 | Destabilizing | None | N | 0.123 | neutral | N | 0.376947975 | None | None | N |
| A/T | 0.0636 | likely_benign | 0.0686 | benign | -1.376 | Destabilizing | 0.002 | N | 0.227 | neutral | N | 0.397400605 | None | None | N |
| A/V | 0.0672 | likely_benign | 0.0794 | benign | -0.466 | Destabilizing | None | N | 0.249 | neutral | N | 0.451717879 | None | None | N |
| A/W | 0.5361 | ambiguous | 0.5862 | pathogenic | -1.499 | Destabilizing | 0.935 | D | 0.586 | neutral | None | None | None | None | N |
| A/Y | 0.2619 | likely_benign | 0.298 | benign | -1.048 | Destabilizing | 0.555 | D | 0.539 | 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.