Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13685 | 41278;41279;41280 | chr2:178636674;178636673;178636672 | chr2:179501401;179501400;179501399 |
| N2AB | 12044 | 36355;36356;36357 | chr2:178636674;178636673;178636672 | chr2:179501401;179501400;179501399 |
| N2A | 11117 | 33574;33575;33576 | chr2:178636674;178636673;178636672 | chr2:179501401;179501400;179501399 |
| N2B | 4620 | 14083;14084;14085 | chr2:178636674;178636673;178636672 | chr2:179501401;179501400;179501399 |
| Novex-1 | 4745 | 14458;14459;14460 | chr2:178636674;178636673;178636672 | chr2:179501401;179501400;179501399 |
| Novex-2 | 4812 | 14659;14660;14661 | chr2:178636674;178636673;178636672 | chr2:179501401;179501400;179501399 |
| 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/S | None | None | 1.0 | D | 0.6 | 0.834 | 0.87862966783 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -2.696 | Highly Destabilizing | 1.0 | D | 0.555 | neutral | None | None | None | None | I |
| F/C | 0.9984 | likely_pathogenic | 0.9986 | pathogenic | -1.401 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | D | 0.749959085 | None | None | I |
| F/D | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -1.889 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | I |
| F/E | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.776 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | I |
| F/G | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -3.058 | Highly Destabilizing | 1.0 | D | 0.638 | neutral | None | None | None | None | I |
| F/H | 0.9977 | likely_pathogenic | 0.9983 | pathogenic | -1.252 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | I |
| F/I | 0.9799 | likely_pathogenic | 0.9725 | pathogenic | -1.568 | Destabilizing | 1.0 | D | 0.594 | neutral | D | 0.531456919 | None | None | I |
| F/K | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.476 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | I |
| F/L | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -1.568 | Destabilizing | 0.999 | D | 0.504 | neutral | D | 0.608181954 | None | None | I |
| F/M | 0.9884 | likely_pathogenic | 0.9876 | pathogenic | -1.217 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | I |
| F/N | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -1.549 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| F/P | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.944 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| F/Q | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.68 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| F/R | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -0.754 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | I |
| F/S | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -2.343 | Highly Destabilizing | 1.0 | D | 0.6 | neutral | D | 0.748970916 | None | None | I |
| F/T | 0.9986 | likely_pathogenic | 0.9989 | pathogenic | -2.14 | Highly Destabilizing | 1.0 | D | 0.6 | neutral | None | None | None | None | I |
| F/V | 0.9854 | likely_pathogenic | 0.9829 | pathogenic | -1.944 | Destabilizing | 1.0 | D | 0.567 | neutral | D | 0.66072514 | None | None | I |
| F/W | 0.9519 | likely_pathogenic | 0.9646 | pathogenic | -0.494 | Destabilizing | 1.0 | D | 0.638 | neutral | None | None | None | None | I |
| F/Y | 0.8442 | likely_pathogenic | 0.8587 | pathogenic | -0.776 | Destabilizing | 0.999 | D | 0.519 | neutral | D | 0.708727326 | None | None | I |
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.