Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18855 | 56788;56789;56790 | chr2:178599230;178599229;178599228 | chr2:179463957;179463956;179463955 |
| N2AB | 17214 | 51865;51866;51867 | chr2:178599230;178599229;178599228 | chr2:179463957;179463956;179463955 |
| N2A | 16287 | 49084;49085;49086 | chr2:178599230;178599229;178599228 | chr2:179463957;179463956;179463955 |
| N2B | 9790 | 29593;29594;29595 | chr2:178599230;178599229;178599228 | chr2:179463957;179463956;179463955 |
| Novex-1 | 9915 | 29968;29969;29970 | chr2:178599230;178599229;178599228 | chr2:179463957;179463956;179463955 |
| Novex-2 | 9982 | 30169;30170;30171 | chr2:178599230;178599229;178599228 | chr2:179463957;179463956;179463955 |
| 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 | None | None | 1.0 | D | 0.871 | 0.905 | 0.907232427097 | gnomAD-4.0.0 | 1.80287E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.14068E-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 | 0.9943 | likely_pathogenic | 0.9947 | pathogenic | -3.432 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| Y/C | 0.9746 | likely_pathogenic | 0.9722 | pathogenic | -2.134 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.670382083 | None | None | N |
| Y/D | 0.9904 | likely_pathogenic | 0.9909 | pathogenic | -3.921 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.670382083 | None | None | N |
| Y/E | 0.9977 | likely_pathogenic | 0.9975 | pathogenic | -3.74 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| Y/F | 0.4857 | ambiguous | 0.4955 | ambiguous | -1.386 | Destabilizing | 0.999 | D | 0.753 | deleterious | D | 0.636294958 | None | None | N |
| Y/G | 0.9817 | likely_pathogenic | 0.9813 | pathogenic | -3.799 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| Y/H | 0.9864 | likely_pathogenic | 0.9841 | pathogenic | -2.348 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.670382083 | None | None | N |
| Y/I | 0.9683 | likely_pathogenic | 0.9701 | pathogenic | -2.187 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| Y/K | 0.9978 | likely_pathogenic | 0.9976 | pathogenic | -2.634 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| Y/L | 0.9489 | likely_pathogenic | 0.9509 | pathogenic | -2.187 | Highly Destabilizing | 0.999 | D | 0.816 | deleterious | None | None | None | None | N |
| Y/M | 0.9797 | likely_pathogenic | 0.9794 | pathogenic | -1.871 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| Y/N | 0.9573 | likely_pathogenic | 0.9564 | pathogenic | -3.376 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.670180279 | None | None | N |
| Y/P | 0.9987 | likely_pathogenic | 0.9987 | pathogenic | -2.62 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| Y/Q | 0.9983 | likely_pathogenic | 0.9981 | pathogenic | -3.189 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| Y/R | 0.9955 | likely_pathogenic | 0.9954 | pathogenic | -2.234 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| Y/S | 0.9866 | likely_pathogenic | 0.9854 | pathogenic | -3.663 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | D | 0.670382083 | None | None | N |
| Y/T | 0.9923 | likely_pathogenic | 0.9916 | pathogenic | -3.382 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| Y/V | 0.9393 | likely_pathogenic | 0.9377 | pathogenic | -2.62 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| Y/W | 0.9217 | likely_pathogenic | 0.9172 | pathogenic | -0.759 | Destabilizing | 1.0 | D | 0.824 | 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.