Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3094 | 9505;9506;9507 | chr2:178768039;178768038;178768037 | chr2:179632766;179632765;179632764 |
| N2AB | 3094 | 9505;9506;9507 | chr2:178768039;178768038;178768037 | chr2:179632766;179632765;179632764 |
| N2A | 3094 | 9505;9506;9507 | chr2:178768039;178768038;178768037 | chr2:179632766;179632765;179632764 |
| N2B | 3048 | 9367;9368;9369 | chr2:178768039;178768038;178768037 | chr2:179632766;179632765;179632764 |
| Novex-1 | 3048 | 9367;9368;9369 | chr2:178768039;178768038;178768037 | chr2:179632766;179632765;179632764 |
| Novex-2 | 3048 | 9367;9368;9369 | chr2:178768039;178768038;178768037 | chr2:179632766;179632765;179632764 |
| Novex-3 | 3094 | 9505;9506;9507 | chr2:178768039;178768038;178768037 | chr2:179632766;179632765;179632764 |
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/G | rs1330654958  |
-0.21 | None | N | 0.143 | 0.108 | 0.0138822411134 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.81E-06 | 0 |
| D/G | rs1330654958 |
-0.21 | None | N | 0.143 | 0.108 | 0.0138822411134 | gnomAD-4.0.0 | 1.59054E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85651E-06 | 0 | 0 |
| D/N | rs1228717391 |
0.335 | 0.024 | N | 0.217 | 0.192 | 0.0551355673512 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.45E-05 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs1228717391 |
0.335 | 0.024 | N | 0.217 | 0.192 | 0.0551355673512 | gnomAD-4.0.0 | 1.59054E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77454E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2011 | likely_benign | 0.1867 | benign | -0.224 | Destabilizing | None | N | 0.159 | neutral | N | 0.351052977 | None | None | N |
| D/C | 0.5559 | ambiguous | 0.5309 | ambiguous | 0.136 | Stabilizing | 0.356 | N | 0.403 | neutral | None | None | None | None | N |
| D/E | 0.1605 | likely_benign | 0.1497 | benign | -0.326 | Destabilizing | 0.024 | N | 0.236 | neutral | N | 0.343994626 | None | None | N |
| D/F | 0.6891 | likely_pathogenic | 0.6794 | pathogenic | -0.356 | Destabilizing | 0.356 | N | 0.473 | neutral | None | None | None | None | N |
| D/G | 0.071 | likely_benign | 0.0648 | benign | -0.418 | Destabilizing | None | N | 0.143 | neutral | N | 0.27745235 | None | None | N |
| D/H | 0.2888 | likely_benign | 0.2787 | benign | -0.379 | Destabilizing | 0.56 | D | 0.347 | neutral | N | 0.35219318 | None | None | N |
| D/I | 0.5638 | ambiguous | 0.5194 | ambiguous | 0.235 | Stabilizing | 0.072 | N | 0.492 | neutral | None | None | None | None | N |
| D/K | 0.3625 | ambiguous | 0.3689 | ambiguous | 0.156 | Stabilizing | 0.031 | N | 0.304 | neutral | None | None | None | None | N |
| D/L | 0.5072 | ambiguous | 0.4878 | ambiguous | 0.235 | Stabilizing | 0.016 | N | 0.367 | neutral | None | None | None | None | N |
| D/M | 0.6877 | likely_pathogenic | 0.653 | pathogenic | 0.458 | Stabilizing | 0.628 | D | 0.41 | neutral | None | None | None | None | N |
| D/N | 0.0868 | likely_benign | 0.0873 | benign | 0.073 | Stabilizing | 0.024 | N | 0.217 | neutral | N | 0.349667817 | None | None | N |
| D/P | 0.9188 | likely_pathogenic | 0.8911 | pathogenic | 0.104 | Stabilizing | 0.136 | N | 0.351 | neutral | None | None | None | None | N |
| D/Q | 0.3097 | likely_benign | 0.2828 | benign | 0.078 | Stabilizing | 0.136 | N | 0.261 | neutral | None | None | None | None | N |
| D/R | 0.3731 | ambiguous | 0.3553 | ambiguous | 0.247 | Stabilizing | 0.072 | N | 0.433 | neutral | None | None | None | None | N |
| D/S | 0.1039 | likely_benign | 0.094 | benign | -0.084 | Destabilizing | 0.007 | N | 0.195 | neutral | None | None | None | None | N |
| D/T | 0.2755 | likely_benign | 0.2588 | benign | 0.052 | Stabilizing | 0.031 | N | 0.289 | neutral | None | None | None | None | N |
| D/V | 0.4077 | ambiguous | 0.3823 | ambiguous | 0.104 | Stabilizing | 0.012 | N | 0.311 | neutral | N | 0.408533955 | None | None | N |
| D/W | 0.8859 | likely_pathogenic | 0.8589 | pathogenic | -0.309 | Destabilizing | 0.864 | D | 0.39 | neutral | None | None | None | None | N |
| D/Y | 0.2913 | likely_benign | 0.3006 | benign | -0.15 | Destabilizing | 0.56 | D | 0.454 | neutral | N | 0.316097201 | 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.