Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27803 | 83632;83633;83634 | chr2:178562725;178562724;178562723 | chr2:179427452;179427451;179427450 |
| N2AB | 26162 | 78709;78710;78711 | chr2:178562725;178562724;178562723 | chr2:179427452;179427451;179427450 |
| N2A | 25235 | 75928;75929;75930 | chr2:178562725;178562724;178562723 | chr2:179427452;179427451;179427450 |
| N2B | 18738 | 56437;56438;56439 | chr2:178562725;178562724;178562723 | chr2:179427452;179427451;179427450 |
| Novex-1 | 18863 | 56812;56813;56814 | chr2:178562725;178562724;178562723 | chr2:179427452;179427451;179427450 |
| Novex-2 | 18930 | 57013;57014;57015 | chr2:178562725;178562724;178562723 | chr2:179427452;179427451;179427450 |
| 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 | None | None | 0.981 | D | 0.63 | 0.548 | 0.719121032051 | gnomAD-4.0.0 | 1.61557E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.89288E-06 | 0 | 0 |
| V/F | rs752391829  |
-1.7 | 0.997 | D | 0.829 | 0.535 | 0.765380577275 | gnomAD-2.1.1 | 7.29E-06 | None | None | None | None | N | None | 8.32E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/F | rs752391829 |
-1.7 | 0.997 | D | 0.829 | 0.535 | 0.765380577275 | gnomAD-4.0.0 | 1.61503E-06 | None | None | None | None | N | None | 5.86992E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | None | None | 0.369 | N | 0.578 | 0.243 | 0.484837542351 | gnomAD-4.0.0 | 1.61503E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.47275E-05 | 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 | 0.8073 | likely_pathogenic | 0.8091 | pathogenic | -2.363 | Highly Destabilizing | 0.981 | D | 0.63 | neutral | D | 0.537362656 | None | None | N |
| V/C | 0.9679 | likely_pathogenic | 0.9685 | pathogenic | -1.609 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| V/D | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -3.261 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.564621171 | None | None | N |
| V/E | 0.9955 | likely_pathogenic | 0.9963 | pathogenic | -2.917 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| V/F | 0.8418 | likely_pathogenic | 0.8793 | pathogenic | -1.281 | Destabilizing | 0.997 | D | 0.829 | deleterious | D | 0.553011376 | None | None | N |
| V/G | 0.9647 | likely_pathogenic | 0.9683 | pathogenic | -2.991 | Highly Destabilizing | 0.999 | D | 0.881 | deleterious | D | 0.564621171 | None | None | N |
| V/H | 0.9983 | likely_pathogenic | 0.9986 | pathogenic | -2.921 | Highly Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| V/I | 0.0685 | likely_benign | 0.0689 | benign | -0.513 | Destabilizing | 0.062 | N | 0.326 | neutral | N | 0.466652833 | None | None | N |
| V/K | 0.9955 | likely_pathogenic | 0.9967 | pathogenic | -1.79 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| V/L | 0.4084 | ambiguous | 0.4275 | ambiguous | -0.513 | Destabilizing | 0.369 | N | 0.578 | neutral | N | 0.485093218 | None | None | N |
| V/M | 0.5722 | likely_pathogenic | 0.613 | pathogenic | -0.823 | Destabilizing | 0.997 | D | 0.745 | deleterious | None | None | None | None | N |
| V/N | 0.9961 | likely_pathogenic | 0.9962 | pathogenic | -2.569 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| V/P | 0.9876 | likely_pathogenic | 0.988 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| V/Q | 0.9943 | likely_pathogenic | 0.9953 | pathogenic | -2.136 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| V/R | 0.9921 | likely_pathogenic | 0.9935 | pathogenic | -2.045 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| V/S | 0.9734 | likely_pathogenic | 0.9748 | pathogenic | -3.028 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| V/T | 0.8322 | likely_pathogenic | 0.8332 | pathogenic | -2.516 | Highly Destabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | N |
| V/W | 0.9971 | likely_pathogenic | 0.9981 | pathogenic | -1.795 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| V/Y | 0.9904 | likely_pathogenic | 0.9931 | pathogenic | -1.528 | Destabilizing | 1.0 | D | 0.827 | 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.