Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7548 | 22867;22868;22869 | chr2:178722021;178722020;178722019 | chr2:179586748;179586747;179586746 |
| N2AB | 7231 | 21916;21917;21918 | chr2:178722021;178722020;178722019 | chr2:179586748;179586747;179586746 |
| N2A | 6304 | 19135;19136;19137 | chr2:178722021;178722020;178722019 | chr2:179586748;179586747;179586746 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs775685171  |
-1.771 | 1.0 | D | 0.757 | 0.727 | 0.775822701225 | 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 |
| W/L | None | None | 1.0 | D | 0.797 | 0.716 | 0.947208517384 | gnomAD-4.0.0 | 6.84417E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99705E-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 | 0.9955 | likely_pathogenic | 0.9968 | pathogenic | -3.201 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| W/C | 0.9982 | likely_pathogenic | 0.9986 | pathogenic | -2.083 | Highly Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.703994111 | None | None | N |
| W/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -3.098 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.988 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| W/F | 0.6353 | likely_pathogenic | 0.6288 | pathogenic | -1.936 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| W/G | 0.9889 | likely_pathogenic | 0.9916 | pathogenic | -3.448 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.720043832 | None | None | N |
| W/H | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -2.234 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| W/I | 0.9744 | likely_pathogenic | 0.9765 | pathogenic | -2.268 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.49 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| W/L | 0.9399 | likely_pathogenic | 0.9536 | pathogenic | -2.268 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.703792306 | None | None | N |
| W/M | 0.9914 | likely_pathogenic | 0.9926 | pathogenic | -1.858 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| W/N | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -3.122 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| W/P | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -2.607 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.981 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| W/R | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -2.122 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.720245636 | None | None | N |
| W/S | 0.9959 | likely_pathogenic | 0.997 | pathogenic | -3.386 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.720245636 | None | None | N |
| W/T | 0.9974 | likely_pathogenic | 0.998 | pathogenic | -3.209 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| W/V | 0.9748 | likely_pathogenic | 0.9783 | pathogenic | -2.607 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| W/Y | 0.9419 | likely_pathogenic | 0.9377 | pathogenic | -1.812 | Destabilizing | 1.0 | D | 0.796 | 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.