Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30498 | 91717;91718;91719 | chr2:178551039;178551038;178551037 | chr2:179415766;179415765;179415764 |
| N2AB | 28857 | 86794;86795;86796 | chr2:178551039;178551038;178551037 | chr2:179415766;179415765;179415764 |
| N2A | 27930 | 84013;84014;84015 | chr2:178551039;178551038;178551037 | chr2:179415766;179415765;179415764 |
| N2B | 21433 | 64522;64523;64524 | chr2:178551039;178551038;178551037 | chr2:179415766;179415765;179415764 |
| Novex-1 | 21558 | 64897;64898;64899 | chr2:178551039;178551038;178551037 | chr2:179415766;179415765;179415764 |
| Novex-2 | 21625 | 65098;65099;65100 | chr2:178551039;178551038;178551037 | chr2:179415766;179415765;179415764 |
| 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/P | rs368724043  |
None | 1.0 | D | 0.85 | 0.789 | 0.762734841261 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93199E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | rs368724043 |
None | 1.0 | D | 0.85 | 0.789 | 0.762734841261 | gnomAD-4.0.0 | 6.56771E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.93648E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | None | -1.926 | 1.0 | D | 0.764 | 0.727 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | None | -1.926 | 1.0 | D | 0.764 | 0.727 | None | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8552 | likely_pathogenic | 0.8561 | pathogenic | -1.532 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| A/D | 0.999 | likely_pathogenic | 0.9991 | pathogenic | -2.592 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/E | 0.9981 | likely_pathogenic | 0.9983 | pathogenic | -2.381 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.651073184 | None | None | N |
| A/F | 0.9946 | likely_pathogenic | 0.9948 | pathogenic | -0.753 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| A/G | 0.5344 | ambiguous | 0.5467 | ambiguous | -1.881 | Destabilizing | 1.0 | D | 0.586 | neutral | D | 0.604620611 | None | None | N |
| A/H | 0.9983 | likely_pathogenic | 0.9984 | pathogenic | -2.062 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| A/I | 0.9776 | likely_pathogenic | 0.984 | pathogenic | -0.133 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/K | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.308 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| A/L | 0.9315 | likely_pathogenic | 0.9388 | pathogenic | -0.133 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| A/M | 0.976 | likely_pathogenic | 0.9783 | pathogenic | -0.594 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| A/N | 0.996 | likely_pathogenic | 0.9964 | pathogenic | -1.66 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| A/P | 0.993 | likely_pathogenic | 0.9954 | pathogenic | -0.519 | Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.634650214 | None | None | N |
| A/Q | 0.9941 | likely_pathogenic | 0.9943 | pathogenic | -1.454 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| A/R | 0.9966 | likely_pathogenic | 0.9971 | pathogenic | -1.399 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| A/S | 0.3468 | ambiguous | 0.357 | ambiguous | -2.082 | Highly Destabilizing | 1.0 | D | 0.575 | neutral | D | 0.58962099 | None | None | N |
| A/T | 0.7894 | likely_pathogenic | 0.8021 | pathogenic | -1.748 | Destabilizing | 1.0 | D | 0.764 | deleterious | D | 0.618227245 | None | None | N |
| A/V | 0.8764 | likely_pathogenic | 0.9025 | pathogenic | -0.519 | Destabilizing | 1.0 | D | 0.669 | neutral | D | 0.617621832 | None | None | N |
| A/W | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.439 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/Y | 0.9982 | likely_pathogenic | 0.9983 | pathogenic | -0.972 | Destabilizing | 1.0 | D | 0.9 | 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.