Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24815 | 74668;74669;74670 | chr2:178571689;178571688;178571687 | chr2:179436416;179436415;179436414 |
| N2AB | 23174 | 69745;69746;69747 | chr2:178571689;178571688;178571687 | chr2:179436416;179436415;179436414 |
| N2A | 22247 | 66964;66965;66966 | chr2:178571689;178571688;178571687 | chr2:179436416;179436415;179436414 |
| N2B | 15750 | 47473;47474;47475 | chr2:178571689;178571688;178571687 | chr2:179436416;179436415;179436414 |
| Novex-1 | 15875 | 47848;47849;47850 | chr2:178571689;178571688;178571687 | chr2:179436416;179436415;179436414 |
| Novex-2 | 15942 | 48049;48050;48051 | chr2:178571689;178571688;178571687 | chr2:179436416;179436415;179436414 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs1348642526  |
0.113 | 1.0 | N | 0.899 | 0.53 | 0.634506232745 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs1348642526 |
0.113 | 1.0 | N | 0.899 | 0.53 | 0.634506232745 | gnomAD-4.0.0 | 3.18383E-06 | None | None | None | None | N | None | 0 | 2.28655E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02517E-05 |
| P/S | None | None | 1.0 | N | 0.819 | 0.408 | 0.418964662724 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.2791 | likely_benign | 0.2655 | benign | -0.375 | Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.481839717 | None | None | N |
| P/C | 0.7558 | likely_pathogenic | 0.7555 | pathogenic | -0.814 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/D | 0.6288 | likely_pathogenic | 0.6284 | pathogenic | -0.147 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| P/E | 0.5014 | ambiguous | 0.4893 | ambiguous | -0.253 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| P/F | 0.8229 | likely_pathogenic | 0.8178 | pathogenic | -0.62 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| P/G | 0.6804 | likely_pathogenic | 0.681 | pathogenic | -0.468 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| P/H | 0.5419 | ambiguous | 0.5247 | ambiguous | -0.004 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/I | 0.6165 | likely_pathogenic | 0.6036 | pathogenic | -0.275 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| P/K | 0.6151 | likely_pathogenic | 0.5994 | pathogenic | -0.393 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| P/L | 0.3313 | likely_benign | 0.3251 | benign | -0.275 | Destabilizing | 1.0 | D | 0.899 | deleterious | N | 0.496417891 | None | None | N |
| P/M | 0.6032 | likely_pathogenic | 0.5836 | pathogenic | -0.535 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| P/N | 0.6356 | likely_pathogenic | 0.6194 | pathogenic | -0.225 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| P/Q | 0.4997 | ambiguous | 0.484 | ambiguous | -0.416 | Destabilizing | 1.0 | D | 0.857 | deleterious | N | 0.495855822 | None | None | N |
| P/R | 0.5162 | ambiguous | 0.5027 | ambiguous | 0.052 | Stabilizing | 1.0 | D | 0.912 | deleterious | N | 0.504819044 | None | None | N |
| P/S | 0.4386 | ambiguous | 0.4191 | ambiguous | -0.582 | Destabilizing | 1.0 | D | 0.819 | deleterious | N | 0.483498785 | None | None | N |
| P/T | 0.304 | likely_benign | 0.2842 | benign | -0.588 | Destabilizing | 1.0 | D | 0.814 | deleterious | N | 0.496665516 | None | None | N |
| P/V | 0.4742 | ambiguous | 0.4641 | ambiguous | -0.277 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/W | 0.9106 | likely_pathogenic | 0.9099 | pathogenic | -0.682 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/Y | 0.7837 | likely_pathogenic | 0.7843 | pathogenic | -0.404 | Destabilizing | 1.0 | D | 0.913 | 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.