Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21794 | 65605;65606;65607 | chr2:178583802;178583801;178583800 | chr2:179448529;179448528;179448527 |
| N2AB | 20153 | 60682;60683;60684 | chr2:178583802;178583801;178583800 | chr2:179448529;179448528;179448527 |
| N2A | 19226 | 57901;57902;57903 | chr2:178583802;178583801;178583800 | chr2:179448529;179448528;179448527 |
| N2B | 12729 | 38410;38411;38412 | chr2:178583802;178583801;178583800 | chr2:179448529;179448528;179448527 |
| Novex-1 | 12854 | 38785;38786;38787 | chr2:178583802;178583801;178583800 | chr2:179448529;179448528;179448527 |
| Novex-2 | 12921 | 38986;38987;38988 | chr2:178583802;178583801;178583800 | chr2:179448529;179448528;179448527 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs2154179261  |
None | 0.722 | D | 0.564 | 0.438 | 0.693423972026 | gnomAD-4.0.0 | 2.05753E-06 | None | None | None | None | N | None | 5.98695E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.66118E-05 |
| V/I | None | -0.576 | 0.044 | N | 0.228 | 0.053 | None | gnomAD-2.1.1 | 2.19E-05 | None | None | None | None | N | None | 8.44E-05 | 5.75E-05 | None | 0 | 5.29E-05 | None | 0 | None | 0 | 8.01E-06 | 0 |
| V/I | None | -0.576 | 0.044 | N | 0.228 | 0.053 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/I | None | -0.576 | 0.044 | N | 0.228 | 0.053 | None | gnomAD-4.0.0 | 2.67106E-05 | None | None | None | None | N | None | 6.68253E-05 | 3.35661E-05 | None | 0 | 0 | None | 0 | 0 | 2.7164E-05 | 0 | 6.42281E-05 |
| V/L | rs373848128 |
-0.579 | 0.319 | N | 0.311 | 0.139 | 0.269558022972 | gnomAD-2.1.1 | 1.46E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.21E-05 | 0 |
| V/L | rs373848128 |
-0.579 | 0.319 | N | 0.311 | 0.139 | 0.269558022972 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/L | rs373848128 |
-0.579 | 0.319 | N | 0.311 | 0.139 | 0.269558022972 | gnomAD-4.0.0 | 6.85958E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00862E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.8122 | likely_pathogenic | 0.7544 | pathogenic | -2.58 | Highly Destabilizing | 0.722 | D | 0.564 | neutral | D | 0.540983507 | None | None | N |
| V/C | 0.9686 | likely_pathogenic | 0.9573 | pathogenic | -1.836 | Destabilizing | 0.996 | D | 0.764 | deleterious | None | None | None | None | N |
| V/D | 0.9982 | likely_pathogenic | 0.9978 | pathogenic | -3.515 | Highly Destabilizing | 0.987 | D | 0.889 | deleterious | None | None | None | None | N |
| V/E | 0.9931 | likely_pathogenic | 0.992 | pathogenic | -3.197 | Highly Destabilizing | 0.983 | D | 0.863 | deleterious | D | 0.541743976 | None | None | N |
| V/F | 0.8093 | likely_pathogenic | 0.7357 | pathogenic | -1.514 | Destabilizing | 0.923 | D | 0.765 | deleterious | None | None | None | None | N |
| V/G | 0.9573 | likely_pathogenic | 0.9501 | pathogenic | -3.161 | Highly Destabilizing | 0.949 | D | 0.881 | deleterious | D | 0.541743976 | None | None | N |
| V/H | 0.9977 | likely_pathogenic | 0.9969 | pathogenic | -2.989 | Highly Destabilizing | 0.996 | D | 0.89 | deleterious | None | None | None | None | N |
| V/I | 0.0913 | likely_benign | 0.0821 | benign | -0.865 | Destabilizing | 0.044 | N | 0.228 | neutral | N | 0.449952584 | None | None | N |
| V/K | 0.9946 | likely_pathogenic | 0.9937 | pathogenic | -2.127 | Highly Destabilizing | 0.961 | D | 0.855 | deleterious | None | None | None | None | N |
| V/L | 0.3822 | ambiguous | 0.3149 | benign | -0.865 | Destabilizing | 0.319 | N | 0.311 | neutral | N | 0.491015347 | None | None | N |
| V/M | 0.5931 | likely_pathogenic | 0.4953 | ambiguous | -1.064 | Destabilizing | 0.237 | N | 0.262 | neutral | None | None | None | None | N |
| V/N | 0.995 | likely_pathogenic | 0.9929 | pathogenic | -2.841 | Highly Destabilizing | 0.987 | D | 0.91 | deleterious | None | None | None | None | N |
| V/P | 0.9888 | likely_pathogenic | 0.9866 | pathogenic | -1.423 | Destabilizing | 0.987 | D | 0.874 | deleterious | None | None | None | None | N |
| V/Q | 0.9896 | likely_pathogenic | 0.9883 | pathogenic | -2.483 | Highly Destabilizing | 0.961 | D | 0.893 | deleterious | None | None | None | None | N |
| V/R | 0.9871 | likely_pathogenic | 0.9868 | pathogenic | -2.188 | Highly Destabilizing | 0.961 | D | 0.905 | deleterious | None | None | None | None | N |
| V/S | 0.9698 | likely_pathogenic | 0.9611 | pathogenic | -3.298 | Highly Destabilizing | 0.961 | D | 0.855 | deleterious | None | None | None | None | N |
| V/T | 0.8547 | likely_pathogenic | 0.8122 | pathogenic | -2.832 | Highly Destabilizing | 0.775 | D | 0.592 | neutral | None | None | None | None | N |
| V/W | 0.9953 | likely_pathogenic | 0.9936 | pathogenic | -2.046 | Highly Destabilizing | 0.996 | D | 0.871 | deleterious | None | None | None | None | N |
| V/Y | 0.9891 | likely_pathogenic | 0.9852 | pathogenic | -1.794 | Destabilizing | 0.961 | D | 0.771 | 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.