Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10021 | 30286;30287;30288 | chr2:178704309;178704308;178704307 | chr2:179569036;179569035;179569034 |
| N2AB | 9704 | 29335;29336;29337 | chr2:178704309;178704308;178704307 | chr2:179569036;179569035;179569034 |
| N2A | 8777 | 26554;26555;26556 | chr2:178704309;178704308;178704307 | chr2:179569036;179569035;179569034 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | None | None | 1.0 | None | 0.878 | 0.921 | 0.957306780153 | gnomAD-4.0.0 | 1.59086E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9951 | likely_pathogenic | 0.9982 | pathogenic | -3.134 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| W/C | 0.9978 | likely_pathogenic | 0.9992 | pathogenic | -1.787 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| W/D | 0.9989 | likely_pathogenic | 0.9995 | pathogenic | -2.756 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| W/E | 0.9992 | likely_pathogenic | 0.9996 | pathogenic | -2.641 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| W/F | 0.6479 | likely_pathogenic | 0.7367 | pathogenic | -1.862 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| W/G | 0.9776 | likely_pathogenic | 0.99 | pathogenic | -3.375 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| W/H | 0.9963 | likely_pathogenic | 0.9983 | pathogenic | -2.059 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| W/I | 0.9667 | likely_pathogenic | 0.9858 | pathogenic | -2.225 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| W/K | 0.9996 | likely_pathogenic | 0.9998 | pathogenic | -2.219 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| W/L | 0.949 | likely_pathogenic | 0.9763 | pathogenic | -2.225 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| W/M | 0.9887 | likely_pathogenic | 0.9954 | pathogenic | -1.749 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| W/N | 0.9985 | likely_pathogenic | 0.9993 | pathogenic | -2.801 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| W/P | 0.9988 | likely_pathogenic | 0.9996 | pathogenic | -2.555 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| W/Q | 0.9997 | likely_pathogenic | 0.9999 | pathogenic | -2.673 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| W/R | 0.9993 | likely_pathogenic | 0.9997 | pathogenic | -1.849 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| W/S | 0.9949 | likely_pathogenic | 0.9981 | pathogenic | -3.114 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| W/T | 0.9944 | likely_pathogenic | 0.9979 | pathogenic | -2.938 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| W/V | 0.9766 | likely_pathogenic | 0.9913 | pathogenic | -2.555 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| W/Y | 0.8993 | likely_pathogenic | 0.9372 | pathogenic | -1.688 | Destabilizing | 1.0 | D | 0.791 | 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.