Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34436 | 103531;103532;103533 | chr2:178533309;178533308;178533307 | chr2:179398036;179398035;179398034 |
| N2AB | 32795 | 98608;98609;98610 | chr2:178533309;178533308;178533307 | chr2:179398036;179398035;179398034 |
| N2A | 31868 | 95827;95828;95829 | chr2:178533309;178533308;178533307 | chr2:179398036;179398035;179398034 |
| N2B | 25371 | 76336;76337;76338 | chr2:178533309;178533308;178533307 | chr2:179398036;179398035;179398034 |
| Novex-1 | 25496 | 76711;76712;76713 | chr2:178533309;178533308;178533307 | chr2:179398036;179398035;179398034 |
| Novex-2 | 25563 | 76912;76913;76914 | chr2:178533309;178533308;178533307 | chr2:179398036;179398035;179398034 |
| 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 | rs1575262566  |
None | 0.999 | N | 0.751 | 0.642 | 0.710200110468 | gnomAD-4.0.0 | 1.59101E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85765E-06 | 0 | 0 |
| V/I | rs770266280 |
0.035 | 0.997 | N | 0.609 | 0.327 | 0.72447223621 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| V/I | rs770266280 |
0.035 | 0.997 | N | 0.609 | 0.327 | 0.72447223621 | gnomAD-4.0.0 | 1.59105E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85768E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.9258 | likely_pathogenic | 0.9019 | pathogenic | -1.93 | Destabilizing | 0.999 | D | 0.751 | deleterious | N | 0.471437869 | None | None | N |
| V/C | 0.9735 | likely_pathogenic | 0.9717 | pathogenic | -1.534 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| V/D | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -2.716 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | N | 0.513074018 | None | None | N |
| V/E | 0.9977 | likely_pathogenic | 0.9972 | pathogenic | -2.423 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| V/F | 0.9641 | likely_pathogenic | 0.9554 | pathogenic | -1.087 | Destabilizing | 1.0 | D | 0.851 | deleterious | N | 0.493195337 | None | None | N |
| V/G | 0.9596 | likely_pathogenic | 0.9543 | pathogenic | -2.546 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | N | 0.513074018 | None | None | N |
| V/H | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -2.48 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| V/I | 0.1882 | likely_benign | 0.1664 | benign | -0.171 | Destabilizing | 0.997 | D | 0.609 | neutral | N | 0.490407632 | None | None | N |
| V/K | 0.9986 | likely_pathogenic | 0.9983 | pathogenic | -1.496 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| V/L | 0.8738 | likely_pathogenic | 0.8521 | pathogenic | -0.171 | Destabilizing | 0.997 | D | 0.731 | prob.delet. | N | 0.517188802 | None | None | N |
| V/M | 0.9117 | likely_pathogenic | 0.8895 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| V/N | 0.9973 | likely_pathogenic | 0.9967 | pathogenic | -2.046 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| V/P | 0.9988 | likely_pathogenic | 0.9982 | pathogenic | -0.733 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| V/Q | 0.9978 | likely_pathogenic | 0.9973 | pathogenic | -1.74 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| V/R | 0.9969 | likely_pathogenic | 0.9963 | pathogenic | -1.603 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| V/S | 0.9906 | likely_pathogenic | 0.9881 | pathogenic | -2.66 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| V/T | 0.9723 | likely_pathogenic | 0.9651 | pathogenic | -2.197 | Highly Destabilizing | 0.999 | D | 0.755 | deleterious | None | None | None | None | N |
| V/W | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.682 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| V/Y | 0.9972 | likely_pathogenic | 0.9966 | pathogenic | -1.251 | Destabilizing | 1.0 | D | 0.847 | 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.