Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5193 | 15802;15803;15804 | chr2:178733812;178733811;178733810 | chr2:179598539;179598538;179598537 |
| N2AB | 4876 | 14851;14852;14853 | chr2:178733812;178733811;178733810 | chr2:179598539;179598538;179598537 |
| N2A | 3949 | 12070;12071;12072 | chr2:178733812;178733811;178733810 | chr2:179598539;179598538;179598537 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs1345800010  |
-0.677 | 1.0 | D | 0.793 | 0.773 | 0.0551355673512 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| G/E | rs1345800010 |
-0.677 | 1.0 | D | 0.793 | 0.773 | 0.0551355673512 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| G/E | rs1345800010 |
-0.677 | 1.0 | D | 0.793 | 0.773 | 0.0551355673512 | gnomAD-4.0.0 | 1.54937E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.0344E-05 | 0 | 1.60123E-05 |
| G/R | None | None | 1.0 | D | 0.79 | 0.832 | 0.223847106136 | gnomAD-4.0.0 | 1.36845E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.51927E-05 | None | 0 | 0 | 8.99505E-07 | 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 | 0.8323 | likely_pathogenic | 0.8695 | pathogenic | -0.251 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.636844202 | None | None | I |
| G/C | 0.9774 | likely_pathogenic | 0.9812 | pathogenic | -0.845 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | I |
| G/D | 0.9896 | likely_pathogenic | 0.9899 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/E | 0.9936 | likely_pathogenic | 0.9937 | pathogenic | -0.641 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.806924678 | None | None | I |
| G/F | 0.9957 | likely_pathogenic | 0.9958 | pathogenic | -0.953 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | I |
| G/H | 0.9983 | likely_pathogenic | 0.9986 | pathogenic | -0.617 | Destabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | I |
| G/I | 0.9897 | likely_pathogenic | 0.9885 | pathogenic | -0.349 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| G/K | 0.998 | likely_pathogenic | 0.9981 | pathogenic | -0.851 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/L | 0.9939 | likely_pathogenic | 0.9941 | pathogenic | -0.349 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| G/M | 0.9969 | likely_pathogenic | 0.9973 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | I |
| G/N | 0.9944 | likely_pathogenic | 0.995 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/P | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/Q | 0.9968 | likely_pathogenic | 0.9971 | pathogenic | -0.711 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/R | 0.9944 | likely_pathogenic | 0.9947 | pathogenic | -0.467 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.853153274 | None | None | I |
| G/S | 0.8995 | likely_pathogenic | 0.9181 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/T | 0.9813 | likely_pathogenic | 0.9836 | pathogenic | -0.681 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/V | 0.9778 | likely_pathogenic | 0.9776 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.853153274 | None | None | I |
| G/W | 0.9934 | likely_pathogenic | 0.9938 | pathogenic | -1.144 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | D | 0.852953974 | None | None | I |
| G/Y | 0.9952 | likely_pathogenic | 0.9957 | pathogenic | -0.779 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
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.