Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29427 | 88504;88505;88506 | chr2:178556875;178556874;178556873 | chr2:179421602;179421601;179421600 |
| N2AB | 27786 | 83581;83582;83583 | chr2:178556875;178556874;178556873 | chr2:179421602;179421601;179421600 |
| N2A | 26859 | 80800;80801;80802 | chr2:178556875;178556874;178556873 | chr2:179421602;179421601;179421600 |
| N2B | 20362 | 61309;61310;61311 | chr2:178556875;178556874;178556873 | chr2:179421602;179421601;179421600 |
| Novex-1 | 20487 | 61684;61685;61686 | chr2:178556875;178556874;178556873 | chr2:179421602;179421601;179421600 |
| Novex-2 | 20554 | 61885;61886;61887 | chr2:178556875;178556874;178556873 | chr2:179421602;179421601;179421600 |
| 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/A | rs1188741659  |
-0.298 | 0.853 | N | 0.62 | 0.263 | 0.228597637076 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs1188741659 |
-0.298 | 0.853 | N | 0.62 | 0.263 | 0.228597637076 | gnomAD-4.0.0 | 6.84265E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52321E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs1188741659 |
None | 0.953 | N | 0.819 | 0.41 | 0.346544149963 | gnomAD-4.0.0 | 6.84265E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99444E-06 | 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 | 0.5292 | ambiguous | 0.3156 | benign | -0.318 | Destabilizing | 0.853 | D | 0.62 | neutral | N | 0.486739238 | None | None | N |
| G/C | 0.7637 | likely_pathogenic | 0.519 | ambiguous | -0.818 | Destabilizing | 0.998 | D | 0.713 | prob.delet. | None | None | None | None | N |
| G/D | 0.8725 | likely_pathogenic | 0.6733 | pathogenic | -0.708 | Destabilizing | 0.982 | D | 0.838 | deleterious | None | None | None | None | N |
| G/E | 0.8415 | likely_pathogenic | 0.6188 | pathogenic | -0.785 | Destabilizing | 0.953 | D | 0.819 | deleterious | N | 0.429923163 | None | None | N |
| G/F | 0.9341 | likely_pathogenic | 0.8178 | pathogenic | -0.708 | Destabilizing | 0.998 | D | 0.761 | deleterious | None | None | None | None | N |
| G/H | 0.9611 | likely_pathogenic | 0.8636 | pathogenic | -0.684 | Destabilizing | 0.998 | D | 0.741 | deleterious | None | None | None | None | N |
| G/I | 0.8365 | likely_pathogenic | 0.6504 | pathogenic | -0.128 | Destabilizing | 0.995 | D | 0.744 | deleterious | None | None | None | None | N |
| G/K | 0.9465 | likely_pathogenic | 0.8384 | pathogenic | -1.031 | Destabilizing | 0.964 | D | 0.818 | deleterious | None | None | None | None | N |
| G/L | 0.872 | likely_pathogenic | 0.6965 | pathogenic | -0.128 | Destabilizing | 0.982 | D | 0.806 | deleterious | None | None | None | None | N |
| G/M | 0.9238 | likely_pathogenic | 0.7874 | pathogenic | -0.364 | Destabilizing | 0.999 | D | 0.72 | deleterious | None | None | None | None | N |
| G/N | 0.9125 | likely_pathogenic | 0.7647 | pathogenic | -0.789 | Destabilizing | 0.964 | D | 0.791 | deleterious | None | None | None | None | N |
| G/P | 0.9501 | likely_pathogenic | 0.8826 | pathogenic | -0.152 | Destabilizing | 0.982 | D | 0.806 | deleterious | None | None | None | None | N |
| G/Q | 0.9147 | likely_pathogenic | 0.764 | pathogenic | -0.947 | Destabilizing | 0.995 | D | 0.735 | deleterious | None | None | None | None | N |
| G/R | 0.9168 | likely_pathogenic | 0.7703 | pathogenic | -0.671 | Destabilizing | 0.976 | D | 0.797 | deleterious | N | 0.492569132 | None | None | N |
| G/S | 0.5045 | ambiguous | 0.2948 | benign | -0.977 | Destabilizing | 0.1 | N | 0.535 | neutral | None | None | None | None | N |
| G/T | 0.7252 | likely_pathogenic | 0.4851 | ambiguous | -0.969 | Destabilizing | 0.964 | D | 0.808 | deleterious | None | None | None | None | N |
| G/V | 0.7628 | likely_pathogenic | 0.5303 | ambiguous | -0.152 | Destabilizing | 0.976 | D | 0.797 | deleterious | N | 0.505978359 | None | None | N |
| G/W | 0.9122 | likely_pathogenic | 0.783 | pathogenic | -1.033 | Destabilizing | 0.999 | D | 0.719 | prob.delet. | N | 0.483351795 | None | None | N |
| G/Y | 0.9135 | likely_pathogenic | 0.7704 | pathogenic | -0.608 | Destabilizing | 0.998 | D | 0.761 | deleterious | 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.