Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28214 | 84865;84866;84867 | chr2:178561492;178561491;178561490 | chr2:179426219;179426218;179426217 |
| N2AB | 26573 | 79942;79943;79944 | chr2:178561492;178561491;178561490 | chr2:179426219;179426218;179426217 |
| N2A | 25646 | 77161;77162;77163 | chr2:178561492;178561491;178561490 | chr2:179426219;179426218;179426217 |
| N2B | 19149 | 57670;57671;57672 | chr2:178561492;178561491;178561490 | chr2:179426219;179426218;179426217 |
| Novex-1 | 19274 | 58045;58046;58047 | chr2:178561492;178561491;178561490 | chr2:179426219;179426218;179426217 |
| Novex-2 | 19341 | 58246;58247;58248 | chr2:178561492;178561491;178561490 | chr2:179426219;179426218;179426217 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/L | None | None | None | N | 0.105 | 0.178 | 0.306695030598 | gnomAD-4.0.0 | 6.84247E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15945E-05 | 0 |
| M/T | rs1007292303  |
None | 0.285 | N | 0.413 | 0.312 | 0.546393912413 | gnomAD-4.0.0 | 1.23165E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.6191E-05 | 0 | 0 |
| M/V | rs72648221 |
-1.124 | 0.036 | N | 0.345 | 0.2 | None | gnomAD-2.1.1 | 2.39253E-04 | None | None | None | None | I | None | 2.47934E-04 | 1.13205E-04 | None | 0 | 0 | None | 0 | None | 0 | 4.45278E-04 | 0 |
| M/V | rs72648221 |
-1.124 | 0.036 | N | 0.345 | 0.2 | None | gnomAD-3.1.2 | 3.02254E-04 | None | None | None | None | I | None | 2.65303E-04 | 3.27354E-04 | 0 | 0 | 0 | None | 0 | 0 | 4.11571E-04 | 4.14079E-04 | 0 |
| M/V | rs72648221 |
-1.124 | 0.036 | N | 0.345 | 0.2 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | I | None | 8E-04 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| M/V | rs72648221 |
-1.124 | 0.036 | N | 0.345 | 0.2 | None | gnomAD-4.0.0 | 4.67849E-04 | None | None | None | None | I | None | 1.73213E-04 | 1.33307E-04 | None | 0 | 0 | None | 0 | 0 | 6.02668E-04 | 3.29402E-05 | 3.20113E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.6095 | likely_pathogenic | 0.566 | pathogenic | -2.212 | Highly Destabilizing | 0.187 | N | 0.459 | neutral | None | None | None | None | I |
| M/C | 0.6185 | likely_pathogenic | 0.5927 | pathogenic | -1.956 | Destabilizing | 0.965 | D | 0.537 | neutral | None | None | None | None | I |
| M/D | 0.9654 | likely_pathogenic | 0.9599 | pathogenic | -1.4 | Destabilizing | 0.965 | D | 0.597 | neutral | None | None | None | None | I |
| M/E | 0.7975 | likely_pathogenic | 0.7813 | pathogenic | -1.25 | Destabilizing | 0.722 | D | 0.529 | neutral | None | None | None | None | I |
| M/F | 0.22 | likely_benign | 0.2091 | benign | -0.821 | Destabilizing | 0.002 | N | 0.147 | neutral | None | None | None | None | I |
| M/G | 0.7649 | likely_pathogenic | 0.7278 | pathogenic | -2.626 | Highly Destabilizing | 0.722 | D | 0.517 | neutral | None | None | None | None | I |
| M/H | 0.6349 | likely_pathogenic | 0.5967 | pathogenic | -1.756 | Destabilizing | 0.965 | D | 0.547 | neutral | None | None | None | None | I |
| M/I | 0.4108 | ambiguous | 0.4037 | ambiguous | -1.062 | Destabilizing | 0.005 | N | 0.197 | neutral | N | 0.409465825 | None | None | I |
| M/K | 0.4504 | ambiguous | 0.413 | ambiguous | -1.338 | Destabilizing | 0.662 | D | 0.487 | neutral | N | 0.470111639 | None | None | I |
| M/L | 0.1174 | likely_benign | 0.1133 | benign | -1.062 | Destabilizing | None | N | 0.105 | neutral | N | 0.381681791 | None | None | I |
| M/N | 0.7835 | likely_pathogenic | 0.7511 | pathogenic | -1.504 | Destabilizing | 0.965 | D | 0.578 | neutral | None | None | None | None | I |
| M/P | 0.9871 | likely_pathogenic | 0.9857 | pathogenic | -1.424 | Destabilizing | 0.965 | D | 0.577 | neutral | None | None | None | None | I |
| M/Q | 0.4243 | ambiguous | 0.3924 | ambiguous | -1.376 | Destabilizing | 0.965 | D | 0.479 | neutral | None | None | None | None | I |
| M/R | 0.421 | ambiguous | 0.3852 | ambiguous | -1.021 | Destabilizing | 0.662 | D | 0.571 | neutral | N | 0.46993828 | None | None | I |
| M/S | 0.6965 | likely_pathogenic | 0.6571 | pathogenic | -2.117 | Highly Destabilizing | 0.722 | D | 0.443 | neutral | None | None | None | None | I |
| M/T | 0.5028 | ambiguous | 0.4791 | ambiguous | -1.845 | Destabilizing | 0.285 | N | 0.413 | neutral | N | 0.423280484 | None | None | I |
| M/V | 0.1411 | likely_benign | 0.1359 | benign | -1.424 | Destabilizing | 0.036 | N | 0.345 | neutral | N | 0.391106564 | None | None | I |
| M/W | 0.592 | likely_pathogenic | 0.5651 | pathogenic | -0.916 | Destabilizing | 0.965 | D | 0.529 | neutral | None | None | None | None | I |
| M/Y | 0.4105 | ambiguous | 0.3888 | ambiguous | -0.959 | Destabilizing | 0.39 | N | 0.467 | 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.