Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35735 | 107428;107429;107430 | chr2:178528548;178528547;178528546 | chr2:179393275;179393274;179393273 |
| N2AB | 34094 | 102505;102506;102507 | chr2:178528548;178528547;178528546 | chr2:179393275;179393274;179393273 |
| N2A | 33167 | 99724;99725;99726 | chr2:178528548;178528547;178528546 | chr2:179393275;179393274;179393273 |
| N2B | 26670 | 80233;80234;80235 | chr2:178528548;178528547;178528546 | chr2:179393275;179393274;179393273 |
| Novex-1 | 26795 | 80608;80609;80610 | chr2:178528548;178528547;178528546 | chr2:179393275;179393274;179393273 |
| Novex-2 | 26862 | 80809;80810;80811 | chr2:178528548;178528547;178528546 | chr2:179393275;179393274;179393273 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/S | None | None | 1.0 | D | 0.83 | 0.893 | 0.962606100052 | gnomAD-4.0.0 | 6.86826E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.02253E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9819 | likely_pathogenic | 0.9734 | pathogenic | -2.601 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| W/C | 0.9905 | likely_pathogenic | 0.9881 | pathogenic | -1.741 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.696332677 | None | None | N |
| W/D | 0.9986 | likely_pathogenic | 0.9982 | pathogenic | -3.206 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| W/E | 0.9988 | likely_pathogenic | 0.9983 | pathogenic | -3.079 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| W/F | 0.4999 | ambiguous | 0.4664 | ambiguous | -1.644 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| W/G | 0.9497 | likely_pathogenic | 0.9306 | pathogenic | -2.848 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.712150234 | None | None | N |
| W/H | 0.996 | likely_pathogenic | 0.9947 | pathogenic | -2.116 | Highly Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| W/I | 0.8971 | likely_pathogenic | 0.8637 | pathogenic | -1.676 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| W/K | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -2.677 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| W/L | 0.8138 | likely_pathogenic | 0.7555 | pathogenic | -1.676 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.686612122 | None | None | N |
| W/M | 0.9614 | likely_pathogenic | 0.9463 | pathogenic | -1.275 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| W/N | 0.9978 | likely_pathogenic | 0.9971 | pathogenic | -3.484 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| W/P | 0.9983 | likely_pathogenic | 0.9978 | pathogenic | -2.012 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| W/Q | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -3.189 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| W/R | 0.9989 | likely_pathogenic | 0.9985 | pathogenic | -2.672 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.712352038 | None | None | N |
| W/S | 0.9873 | likely_pathogenic | 0.9829 | pathogenic | -3.552 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.712352038 | None | None | N |
| W/T | 0.9877 | likely_pathogenic | 0.9822 | pathogenic | -3.35 | Highly Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| W/V | 0.9224 | likely_pathogenic | 0.8917 | pathogenic | -2.012 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| W/Y | 0.8395 | likely_pathogenic | 0.8104 | pathogenic | -1.547 | Destabilizing | 1.0 | D | 0.794 | 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.