Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4675 | 14248;14249;14250 | chr2:178739210;178739209;178739208 | chr2:179603937;179603936;179603935 |
| N2AB | 4358 | 13297;13298;13299 | chr2:178739210;178739209;178739208 | chr2:179603937;179603936;179603935 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 4312 | 13159;13160;13161 | chr2:178739210;178739209;178739208 | chr2:179603937;179603936;179603935 |
| Novex-1 | 4437 | 13534;13535;13536 | chr2:178739210;178739209;178739208 | chr2:179603937;179603936;179603935 |
| Novex-2 | 4504 | 13735;13736;13737 | chr2:178739210;178739209;178739208 | chr2:179603937;179603936;179603935 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs776394244  |
-0.944 | 1.0 | D | 0.875 | 0.862 | None | gnomAD-2.1.1 | 2.34E-05 | None | None | None | None | N | None | 6.61E-05 | 9.61E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.01E-05 | 0 |
| Y/C | rs776394244 |
-0.944 | 1.0 | D | 0.875 | 0.862 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Y/C | rs776394244 |
-0.944 | 1.0 | D | 0.875 | 0.862 | None | gnomAD-4.0.0 | 5.12455E-06 | None | None | None | None | N | None | 1.35604E-05 | 7.11997E-05 | None | 0 | 0 | None | 0 | 0 | 2.6066E-06 | 0 | 0 |
| Y/H | None | None | 1.0 | D | 0.792 | 0.881 | None | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9778 | likely_pathogenic | 0.9893 | pathogenic | -2.057 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| Y/C | 0.8907 | likely_pathogenic | 0.9528 | pathogenic | -1.34 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.788795274 | None | None | N |
| Y/D | 0.9912 | likely_pathogenic | 0.994 | pathogenic | -2.961 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.788795274 | None | None | N |
| Y/E | 0.9949 | likely_pathogenic | 0.9967 | pathogenic | -2.72 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| Y/F | 0.1819 | likely_benign | 0.2032 | benign | -0.713 | Destabilizing | 0.999 | D | 0.694 | prob.neutral | D | 0.627767685 | None | None | N |
| Y/G | 0.9702 | likely_pathogenic | 0.9827 | pathogenic | -2.488 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| Y/H | 0.9689 | likely_pathogenic | 0.9782 | pathogenic | -1.996 | Destabilizing | 1.0 | D | 0.792 | deleterious | D | 0.78941546 | None | None | N |
| Y/I | 0.7527 | likely_pathogenic | 0.8384 | pathogenic | -0.631 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| Y/K | 0.9947 | likely_pathogenic | 0.9964 | pathogenic | -1.929 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| Y/L | 0.7177 | likely_pathogenic | 0.8074 | pathogenic | -0.631 | Destabilizing | 0.999 | D | 0.793 | deleterious | None | None | None | None | N |
| Y/M | 0.8947 | likely_pathogenic | 0.9353 | pathogenic | -0.646 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| Y/N | 0.9617 | likely_pathogenic | 0.9749 | pathogenic | -2.906 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.788795274 | None | None | N |
| Y/P | 0.997 | likely_pathogenic | 0.9982 | pathogenic | -1.121 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| Y/Q | 0.9961 | likely_pathogenic | 0.9977 | pathogenic | -2.409 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| Y/R | 0.988 | likely_pathogenic | 0.9917 | pathogenic | -2.316 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| Y/S | 0.9781 | likely_pathogenic | 0.9884 | pathogenic | -3.105 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.788795274 | None | None | N |
| Y/T | 0.979 | likely_pathogenic | 0.9893 | pathogenic | -2.717 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| Y/V | 0.7222 | likely_pathogenic | 0.8346 | pathogenic | -1.121 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| Y/W | 0.8265 | likely_pathogenic | 0.8559 | pathogenic | -0.174 | Destabilizing | 1.0 | D | 0.786 | 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.