Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5749 | 17470;17471;17472 | chr2:178731521;178731520;178731519 | chr2:179596248;179596247;179596246 |
| N2AB | 5432 | 16519;16520;16521 | chr2:178731521;178731520;178731519 | chr2:179596248;179596247;179596246 |
| N2A | 4505 | 13738;13739;13740 | chr2:178731521;178731520;178731519 | chr2:179596248;179596247;179596246 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/C | None | None | 0.999 | D | 0.839 | 0.837 | 0.878891999469 | gnomAD-4.0.0 | 1.59236E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85979E-06 | 0 | 0 |
| F/L | rs562519092  |
-0.687 | 0.005 | N | 0.281 | 0.282 | 0.37953744168 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93125E-04 | None | 0 | 0 | 0 | 0 | 0 |
| F/L | rs562519092 |
-0.687 | 0.005 | N | 0.281 | 0.282 | 0.37953744168 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| F/L | rs562519092 |
-0.687 | 0.005 | N | 0.281 | 0.282 | 0.37953744168 | gnomAD-4.0.0 | 6.56797E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.93573E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.991 | likely_pathogenic | 0.9892 | pathogenic | -2.092 | Highly Destabilizing | 0.863 | D | 0.725 | prob.delet. | None | None | None | None | N |
| F/C | 0.9445 | likely_pathogenic | 0.9435 | pathogenic | -1.368 | Destabilizing | 0.999 | D | 0.839 | deleterious | D | 0.580839812 | None | None | N |
| F/D | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -2.999 | Highly Destabilizing | 0.997 | D | 0.833 | deleterious | None | None | None | None | N |
| F/E | 0.9992 | likely_pathogenic | 0.9988 | pathogenic | -2.745 | Highly Destabilizing | 0.997 | D | 0.798 | deleterious | None | None | None | None | N |
| F/G | 0.9968 | likely_pathogenic | 0.9955 | pathogenic | -2.566 | Highly Destabilizing | 0.99 | D | 0.787 | deleterious | None | None | None | None | N |
| F/H | 0.9938 | likely_pathogenic | 0.9914 | pathogenic | -1.744 | Destabilizing | 0.999 | D | 0.763 | deleterious | None | None | None | None | N |
| F/I | 0.7038 | likely_pathogenic | 0.6977 | pathogenic | -0.541 | Destabilizing | 0.704 | D | 0.541 | neutral | N | 0.495849272 | None | None | N |
| F/K | 0.999 | likely_pathogenic | 0.9983 | pathogenic | -1.889 | Destabilizing | 0.997 | D | 0.802 | deleterious | None | None | None | None | N |
| F/L | 0.9091 | likely_pathogenic | 0.9062 | pathogenic | -0.541 | Destabilizing | 0.005 | N | 0.281 | neutral | N | 0.444629696 | None | None | N |
| F/M | 0.8319 | likely_pathogenic | 0.8247 | pathogenic | -0.451 | Destabilizing | 0.982 | D | 0.646 | neutral | None | None | None | None | N |
| F/N | 0.9978 | likely_pathogenic | 0.9969 | pathogenic | -2.597 | Highly Destabilizing | 0.997 | D | 0.84 | deleterious | None | None | None | None | N |
| F/P | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.072 | Destabilizing | 0.997 | D | 0.843 | deleterious | None | None | None | None | N |
| F/Q | 0.9976 | likely_pathogenic | 0.9965 | pathogenic | -2.317 | Highly Destabilizing | 0.997 | D | 0.849 | deleterious | None | None | None | None | N |
| F/R | 0.9971 | likely_pathogenic | 0.9956 | pathogenic | -1.929 | Destabilizing | 0.997 | D | 0.843 | deleterious | None | None | None | None | N |
| F/S | 0.994 | likely_pathogenic | 0.992 | pathogenic | -3.056 | Highly Destabilizing | 0.959 | D | 0.747 | deleterious | D | 0.580839812 | None | None | N |
| F/T | 0.9951 | likely_pathogenic | 0.9934 | pathogenic | -2.666 | Highly Destabilizing | 0.939 | D | 0.727 | prob.delet. | None | None | None | None | N |
| F/V | 0.7915 | likely_pathogenic | 0.7898 | pathogenic | -1.072 | Destabilizing | 0.061 | N | 0.527 | neutral | N | 0.49686323 | None | None | N |
| F/W | 0.9242 | likely_pathogenic | 0.9123 | pathogenic | -0.003 | Destabilizing | 0.999 | D | 0.629 | neutral | None | None | None | None | N |
| F/Y | 0.6863 | likely_pathogenic | 0.6784 | pathogenic | -0.372 | Destabilizing | 0.986 | D | 0.589 | neutral | D | 0.580638008 | 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.