Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35154 | 105685;105686;105687 | chr2:178531155;178531154;178531153 | chr2:179395882;179395881;179395880 |
| N2AB | 33513 | 100762;100763;100764 | chr2:178531155;178531154;178531153 | chr2:179395882;179395881;179395880 |
| N2A | 32586 | 97981;97982;97983 | chr2:178531155;178531154;178531153 | chr2:179395882;179395881;179395880 |
| N2B | 26089 | 78490;78491;78492 | chr2:178531155;178531154;178531153 | chr2:179395882;179395881;179395880 |
| Novex-1 | 26214 | 78865;78866;78867 | chr2:178531155;178531154;178531153 | chr2:179395882;179395881;179395880 |
| Novex-2 | 26281 | 79066;79067;79068 | chr2:178531155;178531154;178531153 | chr2:179395882;179395881;179395880 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/C | rs1448128592  |
-0.691 | 1.0 | D | 0.713 | 0.846 | 0.902614888463 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/C | rs1448128592 |
-0.691 | 1.0 | D | 0.713 | 0.846 | 0.902614888463 | gnomAD-4.0.0 | 1.59087E-06 | None | None | None | None | N | None | 5.65227E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7914 | likely_pathogenic | 0.8495 | pathogenic | -0.808 | Destabilizing | 0.999 | D | 0.724 | prob.delet. | D | 0.570429892 | None | None | N |
| G/C | 0.9585 | likely_pathogenic | 0.9766 | pathogenic | -0.876 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | D | 0.660670502 | None | None | N |
| G/D | 0.9892 | likely_pathogenic | 0.9938 | pathogenic | -1.508 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.659459677 | None | None | N |
| G/E | 0.9888 | likely_pathogenic | 0.9935 | pathogenic | -1.556 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| G/F | 0.9963 | likely_pathogenic | 0.998 | pathogenic | -1.077 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/H | 0.997 | likely_pathogenic | 0.9984 | pathogenic | -1.486 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| G/I | 0.9899 | likely_pathogenic | 0.9946 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| G/K | 0.9951 | likely_pathogenic | 0.997 | pathogenic | -1.399 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/L | 0.992 | likely_pathogenic | 0.9957 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/M | 0.9951 | likely_pathogenic | 0.9974 | pathogenic | -0.272 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| G/N | 0.9927 | likely_pathogenic | 0.996 | pathogenic | -1.053 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/P | 0.9991 | likely_pathogenic | 0.9996 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/Q | 0.9914 | likely_pathogenic | 0.9951 | pathogenic | -1.239 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/R | 0.9806 | likely_pathogenic | 0.9884 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.660266894 | None | None | N |
| G/S | 0.7923 | likely_pathogenic | 0.8551 | pathogenic | -1.268 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.59674486 | None | None | N |
| G/T | 0.966 | likely_pathogenic | 0.981 | pathogenic | -1.245 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/V | 0.9771 | likely_pathogenic | 0.9881 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.660266894 | None | None | N |
| G/W | 0.9902 | likely_pathogenic | 0.9941 | pathogenic | -1.477 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| G/Y | 0.995 | likely_pathogenic | 0.9973 | pathogenic | -1.07 | Destabilizing | 1.0 | D | 0.781 | 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.