Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24523 | 73792;73793;73794 | chr2:178572565;178572564;178572563 | chr2:179437292;179437291;179437290 |
| N2AB | 22882 | 68869;68870;68871 | chr2:178572565;178572564;178572563 | chr2:179437292;179437291;179437290 |
| N2A | 21955 | 66088;66089;66090 | chr2:178572565;178572564;178572563 | chr2:179437292;179437291;179437290 |
| N2B | 15458 | 46597;46598;46599 | chr2:178572565;178572564;178572563 | chr2:179437292;179437291;179437290 |
| Novex-1 | 15583 | 46972;46973;46974 | chr2:178572565;178572564;178572563 | chr2:179437292;179437291;179437290 |
| Novex-2 | 15650 | 47173;47174;47175 | chr2:178572565;178572564;178572563 | chr2:179437292;179437291;179437290 |
| 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 | None | None | 1.0 | D | 0.883 | 0.802 | 0.838050535912 | gnomAD-4.0.0 | 1.36869E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79916E-06 | 0 | 0 |
| P/Q | rs753557799  |
-2.232 | 1.0 | D | 0.876 | 0.84 | 0.690387026679 | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.47778E-04 | None | 0 | None | 0 | 0 | 0 |
| P/Q | rs753557799 |
-2.232 | 1.0 | D | 0.876 | 0.84 | 0.690387026679 | gnomAD-4.0.0 | 5.47478E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.51446E-04 | None | 0 | 0 | 8.9958E-07 | 0 | 1.65706E-05 |
| P/R | None | None | 1.0 | D | 0.93 | 0.817 | 0.727353067136 | gnomAD-4.0.0 | 1.36869E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79916E-06 | 0 | 0 |
| P/T | rs1280513533 |
None | 0.998 | D | 0.835 | 0.85 | 0.666698299005 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/T | rs1280513533 |
None | 0.998 | D | 0.835 | 0.85 | 0.666698299005 | gnomAD-4.0.0 | 1.59198E-06 | None | None | None | None | N | None | 0 | 2.28666E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.4579 | ambiguous | 0.3541 | ambiguous | -2.281 | Highly Destabilizing | 0.98 | D | 0.803 | deleterious | D | 0.59720919 | None | None | N |
| P/C | 0.6682 | likely_pathogenic | 0.5988 | pathogenic | -1.979 | Destabilizing | 0.9 | D | 0.825 | deleterious | None | None | None | None | N |
| P/D | 0.9994 | likely_pathogenic | 0.999 | pathogenic | -3.395 | Highly Destabilizing | 0.996 | D | 0.853 | deleterious | None | None | None | None | N |
| P/E | 0.9976 | likely_pathogenic | 0.9958 | pathogenic | -3.149 | Highly Destabilizing | 0.998 | D | 0.853 | deleterious | None | None | None | None | N |
| P/F | 0.9978 | likely_pathogenic | 0.9953 | pathogenic | -1.158 | Destabilizing | 1.0 | D | 0.947 | deleterious | None | None | None | None | N |
| P/G | 0.9822 | likely_pathogenic | 0.9675 | pathogenic | -2.811 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| P/H | 0.9966 | likely_pathogenic | 0.9934 | pathogenic | -2.636 | Highly Destabilizing | 1.0 | D | 0.932 | deleterious | None | None | None | None | N |
| P/I | 0.6618 | likely_pathogenic | 0.561 | ambiguous | -0.763 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| P/K | 0.9987 | likely_pathogenic | 0.9977 | pathogenic | -1.976 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| P/L | 0.7447 | likely_pathogenic | 0.6372 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.66311359 | None | None | N |
| P/M | 0.9461 | likely_pathogenic | 0.9104 | pathogenic | -1.028 | Destabilizing | 1.0 | D | 0.933 | deleterious | None | None | None | None | N |
| P/N | 0.9969 | likely_pathogenic | 0.9943 | pathogenic | -2.439 | Highly Destabilizing | 0.999 | D | 0.925 | deleterious | None | None | None | None | N |
| P/Q | 0.9928 | likely_pathogenic | 0.9866 | pathogenic | -2.21 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | D | 0.647094229 | None | None | N |
| P/R | 0.9948 | likely_pathogenic | 0.9911 | pathogenic | -1.842 | Destabilizing | 1.0 | D | 0.93 | deleterious | D | 0.663315395 | None | None | N |
| P/S | 0.9278 | likely_pathogenic | 0.8785 | pathogenic | -2.94 | Highly Destabilizing | 0.999 | D | 0.843 | deleterious | D | 0.637575479 | None | None | N |
| P/T | 0.7487 | likely_pathogenic | 0.6451 | pathogenic | -2.567 | Highly Destabilizing | 0.998 | D | 0.835 | deleterious | D | 0.631044508 | None | None | N |
| P/V | 0.3196 | likely_benign | 0.2689 | benign | -1.249 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9994 | pathogenic | -1.813 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| P/Y | 0.9992 | likely_pathogenic | 0.9984 | pathogenic | -1.5 | Destabilizing | 1.0 | D | 0.947 | 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.