Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16427 | 49504;49505;49506 | chr2:178614118;178614117;178614116 | chr2:179478845;179478844;179478843 |
| N2AB | 14786 | 44581;44582;44583 | chr2:178614118;178614117;178614116 | chr2:179478845;179478844;179478843 |
| N2A | 13859 | 41800;41801;41802 | chr2:178614118;178614117;178614116 | chr2:179478845;179478844;179478843 |
| N2B | 7362 | 22309;22310;22311 | chr2:178614118;178614117;178614116 | chr2:179478845;179478844;179478843 |
| Novex-1 | 7487 | 22684;22685;22686 | chr2:178614118;178614117;178614116 | chr2:179478845;179478844;179478843 |
| Novex-2 | 7554 | 22885;22886;22887 | chr2:178614118;178614117;178614116 | chr2:179478845;179478844;179478843 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs794727351  |
None | 1.0 | D | 0.6 | 0.615 | 0.633060558607 | gnomAD-4.0.0 | 1.91721E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.51954E-05 | 0 | 0 |
| A/V | None | None | 1.0 | D | 0.699 | 0.615 | 0.689545136808 | gnomAD-4.0.0 | 3.42359E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49917E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9351 | likely_pathogenic | 0.9236 | pathogenic | -1.872 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| A/D | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -2.954 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/E | 0.9985 | likely_pathogenic | 0.9979 | pathogenic | -2.736 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.837901921 | None | None | N |
| A/F | 0.9977 | likely_pathogenic | 0.997 | pathogenic | -0.591 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| A/G | 0.5567 | ambiguous | 0.5109 | ambiguous | -2.05 | Highly Destabilizing | 1.0 | D | 0.6 | neutral | D | 0.71703181 | None | None | N |
| A/H | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -1.978 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/I | 0.9954 | likely_pathogenic | 0.9948 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/K | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -1.433 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/L | 0.9799 | likely_pathogenic | 0.9755 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/M | 0.9913 | likely_pathogenic | 0.9888 | pathogenic | -1.079 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| A/N | 0.9978 | likely_pathogenic | 0.9973 | pathogenic | -1.93 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| A/P | 0.9392 | likely_pathogenic | 0.9482 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.761056009 | None | None | N |
| A/Q | 0.9964 | likely_pathogenic | 0.9954 | pathogenic | -1.656 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| A/R | 0.9979 | likely_pathogenic | 0.9973 | pathogenic | -1.515 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/S | 0.4817 | ambiguous | 0.45 | ambiguous | -2.242 | Highly Destabilizing | 1.0 | D | 0.595 | neutral | D | 0.647594667 | None | None | N |
| A/T | 0.9406 | likely_pathogenic | 0.9261 | pathogenic | -1.92 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.743976167 | None | None | N |
| A/V | 0.9675 | likely_pathogenic | 0.9612 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | D | 0.781938781 | None | None | N |
| A/W | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.255 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/Y | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -0.959 | Destabilizing | 1.0 | D | 0.889 | 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.