Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6764 | 20515;20516;20517 | chr2:178726032;178726031;178726030 | chr2:179590759;179590758;179590757 |
| N2AB | 6447 | 19564;19565;19566 | chr2:178726032;178726031;178726030 | chr2:179590759;179590758;179590757 |
| N2A | 5520 | 16783;16784;16785 | chr2:178726032;178726031;178726030 | chr2:179590759;179590758;179590757 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/I | None | None | 0.007 | N | 0.199 | 0.173 | 0.461144880706 | gnomAD-4.0.0 | 1.86695E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.30192E-06 | 0 | 0 |
| S/N | rs1030649234  |
None | 0.351 | N | 0.235 | 0.131 | 0.166414681773 | 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 |
| S/N | rs1030649234 |
None | 0.351 | N | 0.235 | 0.131 | 0.166414681773 | gnomAD-4.0.0 | 6.57479E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47033E-05 | 0 | 0 |
| S/R | None | None | 0.655 | N | 0.372 | 0.201 | 0.317378411342 | gnomAD-4.0.0 | 7.30962E-07 | None | None | None | None | I | None | 0 | 3.21337E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0837 | likely_benign | 0.0836 | benign | -0.58 | Destabilizing | 0.061 | N | 0.123 | neutral | None | None | None | None | I |
| S/C | 0.1129 | likely_benign | 0.1301 | benign | -0.372 | Destabilizing | 0.004 | N | 0.133 | neutral | N | 0.513089704 | None | None | I |
| S/D | 0.3419 | ambiguous | 0.3371 | benign | 0.572 | Stabilizing | 0.418 | N | 0.172 | neutral | None | None | None | None | I |
| S/E | 0.3924 | ambiguous | 0.4051 | ambiguous | 0.515 | Stabilizing | 0.418 | N | 0.139 | neutral | None | None | None | None | I |
| S/F | 0.1296 | likely_benign | 0.1416 | benign | -1.057 | Destabilizing | 0.264 | N | 0.386 | neutral | None | None | None | None | I |
| S/G | 0.1021 | likely_benign | 0.1016 | benign | -0.735 | Destabilizing | 0.183 | N | 0.121 | neutral | N | 0.482766797 | None | None | I |
| S/H | 0.1825 | likely_benign | 0.2001 | benign | -1.129 | Destabilizing | 0.716 | D | 0.269 | neutral | None | None | None | None | I |
| S/I | 0.1034 | likely_benign | 0.1062 | benign | -0.292 | Destabilizing | 0.007 | N | 0.199 | neutral | N | 0.416157803 | None | None | I |
| S/K | 0.363 | ambiguous | 0.3758 | ambiguous | -0.316 | Destabilizing | 0.418 | N | 0.141 | neutral | None | None | None | None | I |
| S/L | 0.0836 | likely_benign | 0.0869 | benign | -0.292 | Destabilizing | 0.061 | N | 0.214 | neutral | None | None | None | None | I |
| S/M | 0.1948 | likely_benign | 0.1954 | benign | -0.117 | Destabilizing | 0.836 | D | 0.272 | neutral | None | None | None | None | I |
| S/N | 0.1152 | likely_benign | 0.1105 | benign | -0.155 | Destabilizing | 0.351 | N | 0.235 | neutral | N | 0.506027658 | None | None | I |
| S/P | 0.4313 | ambiguous | 0.4486 | ambiguous | -0.358 | Destabilizing | 0.836 | D | 0.375 | neutral | None | None | None | None | I |
| S/Q | 0.3124 | likely_benign | 0.3255 | benign | -0.327 | Destabilizing | 0.836 | D | 0.223 | neutral | None | None | None | None | I |
| S/R | 0.2409 | likely_benign | 0.2653 | benign | -0.184 | Destabilizing | 0.655 | D | 0.372 | neutral | N | 0.443093688 | None | None | I |
| S/T | 0.0691 | likely_benign | 0.069 | benign | -0.306 | Destabilizing | 0.002 | N | 0.067 | neutral | N | 0.399532125 | None | None | I |
| S/V | 0.1248 | likely_benign | 0.1288 | benign | -0.358 | Destabilizing | 0.004 | N | 0.098 | neutral | None | None | None | None | I |
| S/W | 0.2641 | likely_benign | 0.2924 | benign | -1.013 | Destabilizing | 0.951 | D | 0.306 | neutral | None | None | None | None | I |
| S/Y | 0.1226 | likely_benign | 0.1397 | benign | -0.737 | Destabilizing | 0.01 | N | 0.157 | 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.