Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18788 | 56587;56588;56589 | chr2:178599431;178599430;178599429 | chr2:179464158;179464157;179464156 |
| N2AB | 17147 | 51664;51665;51666 | chr2:178599431;178599430;178599429 | chr2:179464158;179464157;179464156 |
| N2A | 16220 | 48883;48884;48885 | chr2:178599431;178599430;178599429 | chr2:179464158;179464157;179464156 |
| N2B | 9723 | 29392;29393;29394 | chr2:178599431;178599430;178599429 | chr2:179464158;179464157;179464156 |
| Novex-1 | 9848 | 29767;29768;29769 | chr2:178599431;178599430;178599429 | chr2:179464158;179464157;179464156 |
| Novex-2 | 9915 | 29968;29969;29970 | chr2:178599431;178599430;178599429 | chr2:179464158;179464157;179464156 |
| 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/S | rs1363268909  |
-2.969 | 1.0 | D | 0.853 | 0.757 | 0.672450045643 | gnomAD-2.1.1 | 5.24E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.09E-05 | 0 |
| P/S | rs1363268909 |
-2.969 | 1.0 | D | 0.853 | 0.757 | 0.672450045643 | gnomAD-4.0.0 | 7.18732E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.26072E-05 | 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 | 0.4815 | ambiguous | 0.3753 | ambiguous | -2.331 | Highly Destabilizing | 1.0 | D | 0.788 | deleterious | D | 0.57376056 | None | None | N |
| P/C | 0.8177 | likely_pathogenic | 0.7814 | pathogenic | -1.9 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/D | 0.9982 | likely_pathogenic | 0.9966 | pathogenic | -3.417 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/E | 0.9936 | likely_pathogenic | 0.9875 | pathogenic | -3.183 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| P/F | 0.9974 | likely_pathogenic | 0.9958 | pathogenic | -1.319 | Destabilizing | 1.0 | D | 0.939 | deleterious | None | None | None | None | N |
| P/G | 0.9739 | likely_pathogenic | 0.9558 | pathogenic | -2.837 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/H | 0.9934 | likely_pathogenic | 0.9879 | pathogenic | -2.691 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| P/I | 0.7621 | likely_pathogenic | 0.6825 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.932 | deleterious | None | None | None | None | N |
| P/K | 0.9971 | likely_pathogenic | 0.9942 | pathogenic | -2.18 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| P/L | 0.8115 | likely_pathogenic | 0.7076 | pathogenic | -0.889 | Destabilizing | 1.0 | D | 0.91 | deleterious | D | 0.627360234 | None | None | N |
| P/M | 0.9476 | likely_pathogenic | 0.9166 | pathogenic | -1.012 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| P/N | 0.9949 | likely_pathogenic | 0.9908 | pathogenic | -2.576 | Highly Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| P/Q | 0.9872 | likely_pathogenic | 0.9754 | pathogenic | -2.384 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.627360234 | None | None | N |
| P/R | 0.9904 | likely_pathogenic | 0.9807 | pathogenic | -1.952 | Destabilizing | 1.0 | D | 0.926 | deleterious | D | 0.627562038 | None | None | N |
| P/S | 0.8896 | likely_pathogenic | 0.8273 | pathogenic | -3.059 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.611340873 | None | None | N |
| P/T | 0.7565 | likely_pathogenic | 0.6597 | pathogenic | -2.709 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.611542677 | None | None | N |
| P/V | 0.4388 | ambiguous | 0.3618 | ambiguous | -1.349 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/W | 0.9994 | likely_pathogenic | 0.999 | pathogenic | -1.97 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/Y | 0.9987 | likely_pathogenic | 0.9976 | pathogenic | -1.638 | Destabilizing | 1.0 | D | 0.941 | 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.