Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7173 | 21742;21743;21744 | chr2:178723583;178723582;178723581 | chr2:179588310;179588309;179588308 |
| N2AB | 6856 | 20791;20792;20793 | chr2:178723583;178723582;178723581 | chr2:179588310;179588309;179588308 |
| N2A | 5929 | 18010;18011;18012 | chr2:178723583;178723582;178723581 | chr2:179588310;179588309;179588308 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1479016308  |
None | 0.121 | N | 0.28 | 0.182 | 0.148003135375 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs1479016308 |
None | 0.121 | N | 0.28 | 0.182 | 0.148003135375 | gnomAD-4.0.0 | 3.04503E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.13533E-04 | None | 0 | 0 | 2.40989E-06 | 0 | 0 |
| G/S | rs1451038846 |
-0.535 | 0.978 | N | 0.45 | 0.321 | 0.243398259712 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| G/S | rs1451038846 |
-0.535 | 0.978 | N | 0.45 | 0.321 | 0.243398259712 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| G/S | rs1451038846 |
-0.535 | 0.978 | N | 0.45 | 0.321 | 0.243398259712 | gnomAD-4.0.0 | 7.43853E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.01731E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2084 | likely_benign | 0.2502 | benign | -0.303 | Destabilizing | 0.978 | D | 0.459 | neutral | N | 0.472114529 | None | None | N |
| G/C | 0.4582 | ambiguous | 0.5379 | ambiguous | -0.729 | Destabilizing | 1.0 | D | 0.663 | neutral | N | 0.5156801 | None | None | N |
| G/D | 0.198 | likely_benign | 0.241 | benign | -0.257 | Destabilizing | 0.121 | N | 0.28 | neutral | N | 0.440446801 | None | None | N |
| G/E | 0.2551 | likely_benign | 0.3145 | benign | -0.349 | Destabilizing | 0.967 | D | 0.545 | neutral | None | None | None | None | N |
| G/F | 0.7469 | likely_pathogenic | 0.8038 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.662 | neutral | None | None | None | None | N |
| G/H | 0.5677 | likely_pathogenic | 0.6608 | pathogenic | -0.722 | Destabilizing | 0.999 | D | 0.601 | neutral | None | None | None | None | N |
| G/I | 0.5885 | likely_pathogenic | 0.6739 | pathogenic | -0.11 | Destabilizing | 0.999 | D | 0.675 | neutral | None | None | None | None | N |
| G/K | 0.5589 | ambiguous | 0.6616 | pathogenic | -0.846 | Destabilizing | 0.995 | D | 0.555 | neutral | None | None | None | None | N |
| G/L | 0.6169 | likely_pathogenic | 0.6872 | pathogenic | -0.11 | Destabilizing | 0.998 | D | 0.671 | neutral | None | None | None | None | N |
| G/M | 0.6707 | likely_pathogenic | 0.7432 | pathogenic | -0.261 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| G/N | 0.3094 | likely_benign | 0.3555 | ambiguous | -0.515 | Destabilizing | 0.643 | D | 0.271 | neutral | None | None | None | None | N |
| G/P | 0.9177 | likely_pathogenic | 0.9443 | pathogenic | -0.134 | Destabilizing | 0.999 | D | 0.607 | neutral | None | None | None | None | N |
| G/Q | 0.4704 | ambiguous | 0.5603 | ambiguous | -0.676 | Destabilizing | 0.998 | D | 0.611 | neutral | None | None | None | None | N |
| G/R | 0.4603 | ambiguous | 0.5677 | pathogenic | -0.553 | Destabilizing | 0.997 | D | 0.612 | neutral | N | 0.470063841 | None | None | N |
| G/S | 0.1541 | likely_benign | 0.1803 | benign | -0.789 | Destabilizing | 0.978 | D | 0.45 | neutral | N | 0.468151283 | None | None | N |
| G/T | 0.3858 | ambiguous | 0.4692 | ambiguous | -0.788 | Destabilizing | 0.995 | D | 0.547 | neutral | None | None | None | None | N |
| G/V | 0.3958 | ambiguous | 0.4784 | ambiguous | -0.134 | Destabilizing | 0.999 | D | 0.673 | neutral | N | 0.475926417 | None | None | N |
| G/W | 0.5857 | likely_pathogenic | 0.6749 | pathogenic | -0.997 | Destabilizing | 1.0 | D | 0.623 | neutral | None | None | None | None | N |
| G/Y | 0.5796 | likely_pathogenic | 0.6571 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | 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.