Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17277 | 52054;52055;52056 | chr2:178609481;178609480;178609479 | chr2:179474208;179474207;179474206 |
| N2AB | 15636 | 47131;47132;47133 | chr2:178609481;178609480;178609479 | chr2:179474208;179474207;179474206 |
| N2A | 14709 | 44350;44351;44352 | chr2:178609481;178609480;178609479 | chr2:179474208;179474207;179474206 |
| N2B | 8212 | 24859;24860;24861 | chr2:178609481;178609480;178609479 | chr2:179474208;179474207;179474206 |
| Novex-1 | 8337 | 25234;25235;25236 | chr2:178609481;178609480;178609479 | chr2:179474208;179474207;179474206 |
| Novex-2 | 8404 | 25435;25436;25437 | chr2:178609481;178609480;178609479 | chr2:179474208;179474207;179474206 |
| 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/R | rs768086093  |
-1.19 | 1.0 | D | 0.859 | 0.765 | 0.72142176282 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| P/R | rs768086093 |
-1.19 | 1.0 | D | 0.859 | 0.765 | 0.72142176282 | gnomAD-4.0.0 | 4.78182E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.58826E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8458 | likely_pathogenic | 0.8293 | pathogenic | -1.607 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.536702136 | None | None | N |
| P/C | 0.9892 | likely_pathogenic | 0.9871 | pathogenic | -1.128 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| P/D | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -1.308 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/E | 0.9985 | likely_pathogenic | 0.9981 | pathogenic | -1.249 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/F | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -1.167 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| P/G | 0.9868 | likely_pathogenic | 0.9831 | pathogenic | -1.994 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/H | 0.998 | likely_pathogenic | 0.9975 | pathogenic | -1.612 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/I | 0.9947 | likely_pathogenic | 0.9941 | pathogenic | -0.621 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/K | 0.9989 | likely_pathogenic | 0.9985 | pathogenic | -1.243 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| P/L | 0.9744 | likely_pathogenic | 0.972 | pathogenic | -0.621 | Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.544509588 | None | None | N |
| P/M | 0.9972 | likely_pathogenic | 0.9965 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| P/N | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/Q | 0.9965 | likely_pathogenic | 0.9955 | pathogenic | -1.203 | Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.5490724 | None | None | N |
| P/R | 0.9953 | likely_pathogenic | 0.9939 | pathogenic | -0.873 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.5490724 | None | None | N |
| P/S | 0.9865 | likely_pathogenic | 0.9843 | pathogenic | -1.746 | Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.548565421 | None | None | N |
| P/T | 0.9862 | likely_pathogenic | 0.9841 | pathogenic | -1.56 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.548565421 | None | None | N |
| P/V | 0.9826 | likely_pathogenic | 0.981 | pathogenic | -0.915 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.43 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| P/Y | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.836 | 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.