Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9527 | 28804;28805;28806 | chr2:178709740;178709739;178709738 | chr2:179574467;179574466;179574465 |
| N2AB | 9210 | 27853;27854;27855 | chr2:178709740;178709739;178709738 | chr2:179574467;179574466;179574465 |
| N2A | 8283 | 25072;25073;25074 | chr2:178709740;178709739;178709738 | chr2:179574467;179574466;179574465 |
| 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/G | None | None | 1.0 | None | 0.788 | 0.952 | 0.930020937758 | gnomAD-4.0.0 | 1.59106E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-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 | 0.985 | likely_pathogenic | 0.9885 | pathogenic | -2.76 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| W/C | 0.986 | likely_pathogenic | 0.9901 | pathogenic | -1.473 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| W/D | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -3.444 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| W/E | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -3.315 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| W/F | 0.4843 | ambiguous | 0.4984 | ambiguous | -1.783 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| W/G | 0.9718 | likely_pathogenic | 0.9806 | pathogenic | -3.011 | Highly Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| W/H | 0.9975 | likely_pathogenic | 0.9984 | pathogenic | -2.381 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| W/I | 0.9275 | likely_pathogenic | 0.9384 | pathogenic | -1.809 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| W/K | 0.9997 | likely_pathogenic | 0.9999 | pathogenic | -2.529 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| W/L | 0.8226 | likely_pathogenic | 0.8599 | pathogenic | -1.809 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| W/M | 0.9712 | likely_pathogenic | 0.977 | pathogenic | -1.282 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| W/N | 0.9992 | likely_pathogenic | 0.9996 | pathogenic | -3.33 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| W/P | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | -2.156 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| W/Q | 0.9996 | likely_pathogenic | 0.9998 | pathogenic | -3.063 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| W/R | 0.9991 | likely_pathogenic | 0.9995 | pathogenic | -2.518 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| W/S | 0.9878 | likely_pathogenic | 0.9929 | pathogenic | -3.366 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| W/T | 0.9893 | likely_pathogenic | 0.993 | pathogenic | -3.155 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| W/V | 0.9188 | likely_pathogenic | 0.93 | pathogenic | -2.156 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| W/Y | 0.9074 | likely_pathogenic | 0.9181 | pathogenic | -1.662 | Destabilizing | 1.0 | D | 0.823 | 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.