Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19755 | 59488;59489;59490 | chr2:178592856;178592855;178592854 | chr2:179457583;179457582;179457581 |
| N2AB | 18114 | 54565;54566;54567 | chr2:178592856;178592855;178592854 | chr2:179457583;179457582;179457581 |
| N2A | 17187 | 51784;51785;51786 | chr2:178592856;178592855;178592854 | chr2:179457583;179457582;179457581 |
| N2B | 10690 | 32293;32294;32295 | chr2:178592856;178592855;178592854 | chr2:179457583;179457582;179457581 |
| Novex-1 | 10815 | 32668;32669;32670 | chr2:178592856;178592855;178592854 | chr2:179457583;179457582;179457581 |
| Novex-2 | 10882 | 32869;32870;32871 | chr2:178592856;178592855;178592854 | chr2:179457583;179457582;179457581 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | None | None | 0.999 | N | 0.667 | 0.505 | 0.535102873643 | gnomAD-4.0.0 | 6.84314E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99582E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9953 | likely_pathogenic | 0.9957 | pathogenic | -2.689 | Highly Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| F/C | 0.9684 | likely_pathogenic | 0.967 | pathogenic | -1.901 | Destabilizing | 1.0 | D | 0.842 | deleterious | D | 0.544998162 | None | None | N |
| F/D | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -3.658 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| F/E | 0.9994 | likely_pathogenic | 0.9994 | pathogenic | -3.426 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| F/G | 0.9958 | likely_pathogenic | 0.9959 | pathogenic | -3.138 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| F/H | 0.996 | likely_pathogenic | 0.9963 | pathogenic | -1.984 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| F/I | 0.8439 | likely_pathogenic | 0.8181 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.497781606 | None | None | N |
| F/K | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -2.612 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| F/L | 0.9807 | likely_pathogenic | 0.9771 | pathogenic | -1.21 | Destabilizing | 0.999 | D | 0.667 | neutral | N | 0.50448033 | None | None | N |
| F/M | 0.9337 | likely_pathogenic | 0.9266 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| F/N | 0.9978 | likely_pathogenic | 0.9981 | pathogenic | -3.309 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| F/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.717 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| F/Q | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -3.131 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| F/R | 0.9982 | likely_pathogenic | 0.9982 | pathogenic | -2.323 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| F/S | 0.9976 | likely_pathogenic | 0.9978 | pathogenic | -3.779 | Highly Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.544998162 | None | None | N |
| F/T | 0.9972 | likely_pathogenic | 0.9976 | pathogenic | -3.424 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| F/V | 0.8847 | likely_pathogenic | 0.8743 | pathogenic | -1.717 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.492168838 | None | None | N |
| F/W | 0.9367 | likely_pathogenic | 0.9365 | pathogenic | -0.52 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| F/Y | 0.6417 | likely_pathogenic | 0.6269 | pathogenic | -0.912 | Destabilizing | 0.999 | D | 0.6 | neutral | N | 0.496495067 | 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.