Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20295 | 61108;61109;61110 | chr2:178590842;178590841;178590840 | chr2:179455569;179455568;179455567 |
| N2AB | 18654 | 56185;56186;56187 | chr2:178590842;178590841;178590840 | chr2:179455569;179455568;179455567 |
| N2A | 17727 | 53404;53405;53406 | chr2:178590842;178590841;178590840 | chr2:179455569;179455568;179455567 |
| N2B | 11230 | 33913;33914;33915 | chr2:178590842;178590841;178590840 | chr2:179455569;179455568;179455567 |
| Novex-1 | 11355 | 34288;34289;34290 | chr2:178590842;178590841;178590840 | chr2:179455569;179455568;179455567 |
| Novex-2 | 11422 | 34489;34490;34491 | chr2:178590842;178590841;178590840 | chr2:179455569;179455568;179455567 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs1208364622  |
-0.701 | 1.0 | D | 0.921 | 0.604 | 0.832200640711 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| P/L | rs1208364622 |
-0.701 | 1.0 | D | 0.921 | 0.604 | 0.832200640711 | gnomAD-4.0.0 | 1.60757E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4353E-05 | 0 |
| P/R | rs1208364622 |
-1.296 | 1.0 | D | 0.911 | 0.547 | 0.688032785875 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.97E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/R | rs1208364622 |
-1.296 | 1.0 | D | 0.911 | 0.547 | 0.688032785875 | gnomAD-4.0.0 | 1.60757E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.78194E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | None | None | 1.0 | D | 0.896 | 0.551 | 0.594565568268 | gnomAD-4.0.0 | 6.87263E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16109E-05 | 0 |
| P/T | None | None | 1.0 | D | 0.898 | 0.574 | 0.64273826783 | gnomAD-4.0.0 | 6.87263E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.5382E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8501 | likely_pathogenic | 0.8793 | pathogenic | -1.696 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.574399923 | None | None | N |
| P/C | 0.9763 | likely_pathogenic | 0.9809 | pathogenic | -1.327 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/D | 0.9974 | likely_pathogenic | 0.998 | pathogenic | -1.203 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/E | 0.9929 | likely_pathogenic | 0.9949 | pathogenic | -1.145 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| P/F | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -1.184 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| P/G | 0.9774 | likely_pathogenic | 0.9818 | pathogenic | -2.09 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| P/H | 0.9907 | likely_pathogenic | 0.9935 | pathogenic | -1.559 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| P/I | 0.9933 | likely_pathogenic | 0.9953 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| P/K | 0.9974 | likely_pathogenic | 0.998 | pathogenic | -1.388 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/L | 0.9529 | likely_pathogenic | 0.9679 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.921 | deleterious | D | 0.62019708 | None | None | N |
| P/M | 0.9935 | likely_pathogenic | 0.9953 | pathogenic | -0.615 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/N | 0.9956 | likely_pathogenic | 0.9968 | pathogenic | -1.255 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| P/Q | 0.9868 | likely_pathogenic | 0.9908 | pathogenic | -1.318 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.60518674 | None | None | N |
| P/R | 0.9912 | likely_pathogenic | 0.9936 | pathogenic | -0.967 | Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.586876093 | None | None | N |
| P/S | 0.9378 | likely_pathogenic | 0.9567 | pathogenic | -1.921 | Destabilizing | 1.0 | D | 0.896 | deleterious | D | 0.555887471 | None | None | N |
| P/T | 0.9509 | likely_pathogenic | 0.9677 | pathogenic | -1.726 | Destabilizing | 1.0 | D | 0.898 | deleterious | D | 0.590621088 | None | None | N |
| P/V | 0.9768 | likely_pathogenic | 0.9833 | pathogenic | -0.988 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| P/W | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -1.379 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/Y | 0.999 | likely_pathogenic | 0.9993 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.91 | 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.