Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25234 | 75925;75926;75927 | chr2:178570432;178570431;178570430 | chr2:179435159;179435158;179435157 |
| N2AB | 23593 | 71002;71003;71004 | chr2:178570432;178570431;178570430 | chr2:179435159;179435158;179435157 |
| N2A | 22666 | 68221;68222;68223 | chr2:178570432;178570431;178570430 | chr2:179435159;179435158;179435157 |
| N2B | 16169 | 48730;48731;48732 | chr2:178570432;178570431;178570430 | chr2:179435159;179435158;179435157 |
| Novex-1 | 16294 | 49105;49106;49107 | chr2:178570432;178570431;178570430 | chr2:179435159;179435158;179435157 |
| Novex-2 | 16361 | 49306;49307;49308 | chr2:178570432;178570431;178570430 | chr2:179435159;179435158;179435157 |
| 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/A | None | None | 1.0 | N | 0.613 | 0.54 | 0.377799810692 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7432 | likely_pathogenic | 0.753 | pathogenic | -0.218 | Destabilizing | 1.0 | D | 0.613 | neutral | N | 0.517344346 | None | None | I |
| G/C | 0.7107 | likely_pathogenic | 0.7374 | pathogenic | -0.837 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/D | 0.9285 | likely_pathogenic | 0.9356 | pathogenic | -0.217 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
| G/E | 0.9497 | likely_pathogenic | 0.9586 | pathogenic | -0.368 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.522739624 | None | None | I |
| G/F | 0.9616 | likely_pathogenic | 0.968 | pathogenic | -0.943 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| G/H | 0.9615 | likely_pathogenic | 0.9683 | pathogenic | -0.381 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| G/I | 0.9577 | likely_pathogenic | 0.9616 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/K | 0.9755 | likely_pathogenic | 0.9837 | pathogenic | -0.532 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/L | 0.9579 | likely_pathogenic | 0.9621 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/M | 0.9644 | likely_pathogenic | 0.9704 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| G/N | 0.882 | likely_pathogenic | 0.8798 | pathogenic | -0.209 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | I |
| G/P | 0.9969 | likely_pathogenic | 0.9978 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/Q | 0.9403 | likely_pathogenic | 0.9531 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/R | 0.9353 | likely_pathogenic | 0.953 | pathogenic | -0.169 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.522486134 | None | None | I |
| G/S | 0.5673 | likely_pathogenic | 0.5715 | pathogenic | -0.403 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| G/T | 0.9063 | likely_pathogenic | 0.9162 | pathogenic | -0.472 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| G/V | 0.9293 | likely_pathogenic | 0.9374 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.556466145 | None | None | I |
| G/W | 0.961 | likely_pathogenic | 0.9675 | pathogenic | -1.074 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.557733593 | None | None | I |
| G/Y | 0.9498 | likely_pathogenic | 0.9582 | pathogenic | -0.725 | Destabilizing | 1.0 | D | 0.764 | deleterious | 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.