Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9218 | 27877;27878;27879 | chr2:178712178;178712177;178712176 | chr2:179576905;179576904;179576903 |
| N2AB | 8901 | 26926;26927;26928 | chr2:178712178;178712177;178712176 | chr2:179576905;179576904;179576903 |
| N2A | 7974 | 24145;24146;24147 | chr2:178712178;178712177;178712176 | chr2:179576905;179576904;179576903 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.001 | N | 0.099 | 0.068 | 0.190952846119 | gnomAD-4.0.0 | 1.59132E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85842E-06 | 0 | 0 |
| V/F | rs746558975  |
-0.641 | 0.927 | N | 0.331 | 0.246 | 0.516938183928 | gnomAD-2.1.1 | 4.43E-05 | None | None | None | None | I | None | 0 | 1.45037E-04 | None | 0 | 0 | None | 0 | None | 0 | 5.34E-05 | 0 |
| V/F | rs746558975 |
-0.641 | 0.927 | N | 0.331 | 0.246 | 0.516938183928 | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | I | None | 0 | 1.96644E-04 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 0 |
| V/F | rs746558975 |
-0.641 | 0.927 | N | 0.331 | 0.246 | 0.516938183928 | gnomAD-4.0.0 | 2.85069E-05 | None | None | None | None | I | None | 2.67001E-05 | 1.83425E-04 | None | 0 | 0 | None | 0 | 3.28947E-04 | 2.54285E-05 | 0 | 1.60102E-05 |
| V/I | None | None | 0.425 | N | 0.377 | 0.106 | 0.202949470691 | gnomAD-4.0.0 | 6.84227E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65645E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.0958 | likely_benign | 0.1144 | benign | -1.016 | Destabilizing | 0.001 | N | 0.099 | neutral | N | 0.41060947 | None | None | I |
| V/C | 0.7051 | likely_pathogenic | 0.8086 | pathogenic | -0.78 | Destabilizing | 0.981 | D | 0.331 | neutral | None | None | None | None | I |
| V/D | 0.3704 | ambiguous | 0.4775 | ambiguous | -0.566 | Destabilizing | 0.473 | N | 0.43 | neutral | N | 0.475258381 | None | None | I |
| V/E | 0.2449 | likely_benign | 0.2746 | benign | -0.635 | Destabilizing | 0.031 | N | 0.233 | neutral | None | None | None | None | I |
| V/F | 0.1505 | likely_benign | 0.2132 | benign | -0.97 | Destabilizing | 0.927 | D | 0.331 | neutral | N | 0.47509027 | None | None | I |
| V/G | 0.2072 | likely_benign | 0.2725 | benign | -1.243 | Destabilizing | 0.27 | N | 0.433 | neutral | N | 0.486864649 | None | None | I |
| V/H | 0.4843 | ambiguous | 0.5882 | pathogenic | -0.737 | Destabilizing | 0.981 | D | 0.361 | neutral | None | None | None | None | I |
| V/I | 0.0676 | likely_benign | 0.0771 | benign | -0.535 | Destabilizing | 0.425 | N | 0.377 | neutral | N | 0.466676184 | None | None | I |
| V/K | 0.2303 | likely_benign | 0.2325 | benign | -0.796 | Destabilizing | 0.704 | D | 0.429 | neutral | None | None | None | None | I |
| V/L | 0.1598 | likely_benign | 0.2195 | benign | -0.535 | Destabilizing | 0.27 | N | 0.388 | neutral | N | 0.469215057 | None | None | I |
| V/M | 0.1187 | likely_benign | 0.1538 | benign | -0.413 | Destabilizing | 0.981 | D | 0.305 | neutral | None | None | None | None | I |
| V/N | 0.2521 | likely_benign | 0.3294 | benign | -0.516 | Destabilizing | 0.704 | D | 0.395 | neutral | None | None | None | None | I |
| V/P | 0.3751 | ambiguous | 0.46 | ambiguous | -0.659 | Destabilizing | 0.828 | D | 0.4 | neutral | None | None | None | None | I |
| V/Q | 0.257 | likely_benign | 0.2855 | benign | -0.748 | Destabilizing | 0.893 | D | 0.384 | neutral | None | None | None | None | I |
| V/R | 0.196 | likely_benign | 0.2156 | benign | -0.244 | Destabilizing | 0.893 | D | 0.403 | neutral | None | None | None | None | I |
| V/S | 0.157 | likely_benign | 0.1916 | benign | -1.004 | Destabilizing | 0.085 | N | 0.213 | neutral | None | None | None | None | I |
| V/T | 0.1207 | likely_benign | 0.1417 | benign | -0.965 | Destabilizing | 0.031 | N | 0.16 | neutral | None | None | None | None | I |
| V/W | 0.7424 | likely_pathogenic | 0.8511 | pathogenic | -1.059 | Destabilizing | 0.995 | D | 0.411 | neutral | None | None | None | None | I |
| V/Y | 0.5142 | ambiguous | 0.6136 | pathogenic | -0.773 | Destabilizing | 0.981 | D | 0.325 | 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.