Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20920 | 62983;62984;62985 | chr2:178588967;178588966;178588965 | chr2:179453694;179453693;179453692 |
| N2AB | 19279 | 58060;58061;58062 | chr2:178588967;178588966;178588965 | chr2:179453694;179453693;179453692 |
| N2A | 18352 | 55279;55280;55281 | chr2:178588967;178588966;178588965 | chr2:179453694;179453693;179453692 |
| N2B | 11855 | 35788;35789;35790 | chr2:178588967;178588966;178588965 | chr2:179453694;179453693;179453692 |
| Novex-1 | 11980 | 36163;36164;36165 | chr2:178588967;178588966;178588965 | chr2:179453694;179453693;179453692 |
| Novex-2 | 12047 | 36364;36365;36366 | chr2:178588967;178588966;178588965 | chr2:179453694;179453693;179453692 |
| 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/I | rs752337479  |
0.14 | None | N | 0.181 | 0.101 | 0.250579442822 | 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 |
| T/I | rs752337479 |
0.14 | None | N | 0.181 | 0.101 | 0.250579442822 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs752337479 |
0.14 | None | N | 0.181 | 0.101 | 0.250579442822 | gnomAD-4.0.0 | 3.10116E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.2396E-06 | 0 | 0 |
| T/K | None | None | 0.117 | N | 0.357 | 0.126 | 0.259272394797 | gnomAD-4.0.0 | 6.84797E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65826E-05 |
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 | 0.0791 | likely_benign | 0.0779 | benign | -0.701 | Destabilizing | 0.027 | N | 0.281 | neutral | N | 0.47247994 | None | None | I |
| T/C | 0.308 | likely_benign | 0.3228 | benign | -0.61 | Destabilizing | 0.824 | D | 0.354 | neutral | None | None | None | None | I |
| T/D | 0.3918 | ambiguous | 0.3687 | ambiguous | 0.069 | Stabilizing | 0.555 | D | 0.383 | neutral | None | None | None | None | I |
| T/E | 0.2801 | likely_benign | 0.2717 | benign | 0.107 | Stabilizing | 0.555 | D | 0.36 | neutral | None | None | None | None | I |
| T/F | 0.1817 | likely_benign | 0.1758 | benign | -0.972 | Destabilizing | 0.38 | N | 0.38 | neutral | None | None | None | None | I |
| T/G | 0.1835 | likely_benign | 0.1821 | benign | -0.92 | Destabilizing | 0.262 | N | 0.319 | neutral | None | None | None | None | I |
| T/H | 0.1863 | likely_benign | 0.1752 | benign | -0.823 | Destabilizing | 0.935 | D | 0.361 | neutral | None | None | None | None | I |
| T/I | 0.1266 | likely_benign | 0.1107 | benign | -0.203 | Destabilizing | None | N | 0.181 | neutral | N | 0.506979303 | None | None | I |
| T/K | 0.1711 | likely_benign | 0.1515 | benign | -0.304 | Destabilizing | 0.117 | N | 0.357 | neutral | N | 0.477309757 | None | None | I |
| T/L | 0.0764 | likely_benign | 0.0736 | benign | -0.203 | Destabilizing | 0.001 | N | 0.185 | neutral | None | None | None | None | I |
| T/M | 0.0793 | likely_benign | 0.0794 | benign | -0.43 | Destabilizing | 0.035 | N | 0.296 | neutral | None | None | None | None | I |
| T/N | 0.1007 | likely_benign | 0.0961 | benign | -0.474 | Destabilizing | 0.555 | D | 0.357 | neutral | None | None | None | None | I |
| T/P | 0.188 | likely_benign | 0.1696 | benign | -0.34 | Destabilizing | 0.001 | N | 0.177 | neutral | D | 0.525314347 | None | None | I |
| T/Q | 0.1739 | likely_benign | 0.1671 | benign | -0.481 | Destabilizing | 0.555 | D | 0.389 | neutral | None | None | None | None | I |
| T/R | 0.1697 | likely_benign | 0.1587 | benign | -0.076 | Destabilizing | 0.484 | N | 0.381 | neutral | N | 0.47557896 | None | None | I |
| T/S | 0.0921 | likely_benign | 0.0923 | benign | -0.775 | Destabilizing | 0.117 | N | 0.219 | neutral | N | 0.47640568 | None | None | I |
| T/V | 0.1023 | likely_benign | 0.0981 | benign | -0.34 | Destabilizing | 0.001 | N | 0.103 | neutral | None | None | None | None | I |
| T/W | 0.5044 | ambiguous | 0.5087 | ambiguous | -1.023 | Destabilizing | 0.935 | D | 0.41 | neutral | None | None | None | None | I |
| T/Y | 0.2084 | likely_benign | 0.2004 | benign | -0.696 | Destabilizing | 0.555 | D | 0.375 | 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.