Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9623 | 29092;29093;29094 | chr2:178707700;178707699;178707698 | chr2:179572427;179572426;179572425 |
| N2AB | 9306 | 28141;28142;28143 | chr2:178707700;178707699;178707698 | chr2:179572427;179572426;179572425 |
| N2A | 8379 | 25360;25361;25362 | chr2:178707700;178707699;178707698 | chr2:179572427;179572426;179572425 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/L | None | None | 1.0 | None | 0.784 | 0.912 | 0.950575755727 | gnomAD-4.0.0 | 6.8417E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99426E-07 | 0 | 0 |
| W/S | None | None | 1.0 | None | 0.825 | 0.91 | 0.960224441878 | gnomAD-4.0.0 | 6.8417E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15939E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9955 | likely_pathogenic | 0.994 | pathogenic | -2.808 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| W/C | 0.997 | likely_pathogenic | 0.9954 | pathogenic | -1.368 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| W/D | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -3.514 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| W/E | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -3.394 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| W/F | 0.5383 | ambiguous | 0.6008 | pathogenic | -1.836 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| W/G | 0.9776 | likely_pathogenic | 0.9708 | pathogenic | -3.046 | Highly Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| W/H | 0.9964 | likely_pathogenic | 0.9962 | pathogenic | -2.387 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| W/I | 0.9644 | likely_pathogenic | 0.9618 | pathogenic | -1.899 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| W/K | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -2.512 | Highly Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| W/L | 0.9147 | likely_pathogenic | 0.8951 | pathogenic | -1.899 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| W/M | 0.982 | likely_pathogenic | 0.9794 | pathogenic | -1.304 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| W/N | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -3.295 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| W/P | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -2.231 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| W/Q | 0.9996 | likely_pathogenic | 0.9994 | pathogenic | -3.06 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| W/R | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -2.452 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| W/S | 0.9954 | likely_pathogenic | 0.9938 | pathogenic | -3.306 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| W/T | 0.9955 | likely_pathogenic | 0.9945 | pathogenic | -3.106 | Highly Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| W/V | 0.9721 | likely_pathogenic | 0.9675 | pathogenic | -2.231 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| W/Y | 0.8757 | likely_pathogenic | 0.891 | pathogenic | -1.713 | Destabilizing | 1.0 | D | 0.801 | 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.