Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5149 | 15670;15671;15672 | chr2:178734379;178734378;178734377 | chr2:179599106;179599105;179599104 |
| N2AB | 4832 | 14719;14720;14721 | chr2:178734379;178734378;178734377 | chr2:179599106;179599105;179599104 |
| N2A | 3905 | 11938;11939;11940 | chr2:178734379;178734378;178734377 | chr2:179599106;179599105;179599104 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1367341896  |
None | 0.517 | N | 0.655 | 0.29 | 0.392395365052 | gnomAD-4.0.0 | 1.59697E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43897E-05 | 0 |
| V/F | rs1367681610 |
None | 0.901 | D | 0.821 | 0.584 | 0.786193331273 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| V/F | rs1367681610 |
None | 0.901 | D | 0.821 | 0.584 | 0.786193331273 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/F | rs1367681610 |
None | 0.901 | D | 0.821 | 0.584 | 0.786193331273 | gnomAD-4.0.0 | 1.61351E-05 | None | None | None | None | N | None | 2.67187E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.95182E-05 | 0 | 1.60339E-05 |
| V/I | rs1367681610 |
None | 0.003 | D | 0.224 | 0.147 | 0.338592109245 | gnomAD-4.0.0 | 6.853E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00619E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2444 | likely_benign | 0.2717 | benign | -2.143 | Highly Destabilizing | 0.517 | D | 0.655 | neutral | N | 0.403662973 | None | None | N |
| V/C | 0.9394 | likely_pathogenic | 0.9562 | pathogenic | -1.611 | Destabilizing | 0.996 | D | 0.792 | deleterious | None | None | None | None | N |
| V/D | 0.9964 | likely_pathogenic | 0.997 | pathogenic | -2.821 | Highly Destabilizing | 0.983 | D | 0.867 | deleterious | D | 0.720753059 | None | None | N |
| V/E | 0.9895 | likely_pathogenic | 0.9908 | pathogenic | -2.56 | Highly Destabilizing | 0.987 | D | 0.84 | deleterious | None | None | None | None | N |
| V/F | 0.7323 | likely_pathogenic | 0.7659 | pathogenic | -1.194 | Destabilizing | 0.901 | D | 0.821 | deleterious | D | 0.611398242 | None | None | N |
| V/G | 0.7548 | likely_pathogenic | 0.7888 | pathogenic | -2.721 | Highly Destabilizing | 0.949 | D | 0.853 | deleterious | D | 0.611398242 | None | None | N |
| V/H | 0.9964 | likely_pathogenic | 0.9972 | pathogenic | -2.53 | Highly Destabilizing | 0.996 | D | 0.846 | deleterious | None | None | None | None | N |
| V/I | 0.1038 | likely_benign | 0.117 | benign | -0.505 | Destabilizing | 0.003 | N | 0.224 | neutral | D | 0.522763278 | None | None | N |
| V/K | 0.9955 | likely_pathogenic | 0.9955 | pathogenic | -1.825 | Destabilizing | 0.961 | D | 0.843 | deleterious | None | None | None | None | N |
| V/L | 0.4907 | ambiguous | 0.5162 | ambiguous | -0.505 | Destabilizing | 0.075 | N | 0.428 | neutral | D | 0.559791973 | None | None | N |
| V/M | 0.5291 | ambiguous | 0.56 | ambiguous | -0.597 | Destabilizing | 0.923 | D | 0.742 | deleterious | None | None | None | None | N |
| V/N | 0.9875 | likely_pathogenic | 0.9908 | pathogenic | -2.25 | Highly Destabilizing | 0.987 | D | 0.867 | deleterious | None | None | None | None | N |
| V/P | 0.9878 | likely_pathogenic | 0.9898 | pathogenic | -1.026 | Destabilizing | 0.987 | D | 0.834 | deleterious | None | None | None | None | N |
| V/Q | 0.9879 | likely_pathogenic | 0.9894 | pathogenic | -2.012 | Highly Destabilizing | 0.987 | D | 0.854 | deleterious | None | None | None | None | N |
| V/R | 0.9888 | likely_pathogenic | 0.9886 | pathogenic | -1.747 | Destabilizing | 0.987 | D | 0.871 | deleterious | None | None | None | None | N |
| V/S | 0.7998 | likely_pathogenic | 0.8334 | pathogenic | -2.861 | Highly Destabilizing | 0.961 | D | 0.815 | deleterious | None | None | None | None | N |
| V/T | 0.5563 | ambiguous | 0.6289 | pathogenic | -2.449 | Highly Destabilizing | 0.775 | D | 0.693 | prob.neutral | None | None | None | None | N |
| V/W | 0.9964 | likely_pathogenic | 0.9972 | pathogenic | -1.777 | Destabilizing | 0.996 | D | 0.827 | deleterious | None | None | None | None | N |
| V/Y | 0.9841 | likely_pathogenic | 0.9878 | pathogenic | -1.381 | Destabilizing | 0.961 | D | 0.816 | 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.