Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16930 | 51013;51014;51015 | chr2:178611441;178611440;178611439 | chr2:179476168;179476167;179476166 |
| N2AB | 15289 | 46090;46091;46092 | chr2:178611441;178611440;178611439 | chr2:179476168;179476167;179476166 |
| N2A | 14362 | 43309;43310;43311 | chr2:178611441;178611440;178611439 | chr2:179476168;179476167;179476166 |
| N2B | 7865 | 23818;23819;23820 | chr2:178611441;178611440;178611439 | chr2:179476168;179476167;179476166 |
| Novex-1 | 7990 | 24193;24194;24195 | chr2:178611441;178611440;178611439 | chr2:179476168;179476167;179476166 |
| Novex-2 | 8057 | 24394;24395;24396 | chr2:178611441;178611440;178611439 | chr2:179476168;179476167;179476166 |
| 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/E | None | None | 1.0 | D | 0.834 | 0.747 | 0.876413698079 | gnomAD-4.0.0 | 6.84564E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65793E-05 |
| A/V | None | None | 1.0 | D | 0.692 | 0.692 | 0.826432877191 | gnomAD-4.0.0 | 1.36913E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79956E-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 | 0.9275 | likely_pathogenic | 0.9633 | pathogenic | -1.833 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| A/D | 0.9983 | likely_pathogenic | 0.9992 | pathogenic | -2.79 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| A/E | 0.9974 | likely_pathogenic | 0.9983 | pathogenic | -2.564 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | D | 0.813042382 | None | None | N |
| A/F | 0.997 | likely_pathogenic | 0.9977 | pathogenic | -0.689 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| A/G | 0.5861 | likely_pathogenic | 0.7164 | pathogenic | -2.328 | Highly Destabilizing | 1.0 | D | 0.622 | neutral | D | 0.713424176 | None | None | N |
| A/H | 0.9984 | likely_pathogenic | 0.9993 | pathogenic | -2.095 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/I | 0.9915 | likely_pathogenic | 0.9945 | pathogenic | -0.758 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| A/K | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.497 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| A/L | 0.9699 | likely_pathogenic | 0.9743 | pathogenic | -0.758 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| A/M | 0.9833 | likely_pathogenic | 0.9912 | pathogenic | -1.261 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/N | 0.9954 | likely_pathogenic | 0.9984 | pathogenic | -1.956 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/P | 0.9931 | likely_pathogenic | 0.992 | pathogenic | -1.117 | Destabilizing | 1.0 | D | 0.842 | deleterious | D | 0.778655087 | None | None | N |
| A/Q | 0.9951 | likely_pathogenic | 0.9969 | pathogenic | -1.658 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| A/R | 0.9981 | likely_pathogenic | 0.9981 | pathogenic | -1.573 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/S | 0.3602 | ambiguous | 0.6553 | pathogenic | -2.311 | Highly Destabilizing | 1.0 | D | 0.609 | neutral | D | 0.684458398 | None | None | N |
| A/T | 0.8867 | likely_pathogenic | 0.9651 | pathogenic | -1.984 | Destabilizing | 1.0 | D | 0.776 | deleterious | D | 0.758385056 | None | None | N |
| A/V | 0.9357 | likely_pathogenic | 0.9635 | pathogenic | -1.117 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | D | 0.758930554 | None | None | N |
| A/W | 0.9996 | likely_pathogenic | 0.9998 | pathogenic | -1.263 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/Y | 0.9986 | likely_pathogenic | 0.9991 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.873 | 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.