Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 27755 | 83488;83489;83490 | chr2:178562869;178562868;178562867 | chr2:179427596;179427595;179427594 |
N2AB | 26114 | 78565;78566;78567 | chr2:178562869;178562868;178562867 | chr2:179427596;179427595;179427594 |
N2A | 25187 | 75784;75785;75786 | chr2:178562869;178562868;178562867 | chr2:179427596;179427595;179427594 |
N2B | 18690 | 56293;56294;56295 | chr2:178562869;178562868;178562867 | chr2:179427596;179427595;179427594 |
Novex-1 | 18815 | 56668;56669;56670 | chr2:178562869;178562868;178562867 | chr2:179427596;179427595;179427594 |
Novex-2 | 18882 | 56869;56870;56871 | chr2:178562869;178562868;178562867 | chr2:179427596;179427595;179427594 |
Novex-3 | None | None | chr2:None | chr2:None |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
K/N | None | None | 0.99 | N | 0.677 | 0.365 | 0.307332253619 | gnomAD-4.0.0 | 1.59287E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8601E-06 | 0 | 0 |
K/Q | None | None | 0.99 | N | 0.689 | 0.401 | 0.370051654043 | gnomAD-4.0.0 | 1.59297E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86022E-06 | 0 | 0 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
K/A | 0.7869 | likely_pathogenic | 0.8338 | pathogenic | 0.022 | Stabilizing | 0.86 | D | 0.615 | neutral | None | None | None | None | N |
K/C | 0.9066 | likely_pathogenic | 0.9247 | pathogenic | -0.261 | Destabilizing | 0.998 | D | 0.742 | deleterious | None | None | None | None | N |
K/D | 0.973 | likely_pathogenic | 0.9787 | pathogenic | 0.105 | Stabilizing | 0.993 | D | 0.715 | prob.delet. | None | None | None | None | N |
K/E | 0.7767 | likely_pathogenic | 0.8066 | pathogenic | 0.099 | Stabilizing | 0.966 | D | 0.62 | neutral | D | 0.531517962 | None | None | N |
K/F | 0.9825 | likely_pathogenic | 0.9863 | pathogenic | -0.288 | Destabilizing | 0.956 | D | 0.742 | deleterious | None | None | None | None | N |
K/G | 0.9191 | likely_pathogenic | 0.9376 | pathogenic | -0.143 | Destabilizing | 0.978 | D | 0.669 | neutral | None | None | None | None | N |
K/H | 0.7372 | likely_pathogenic | 0.7653 | pathogenic | -0.413 | Destabilizing | 0.998 | D | 0.662 | neutral | None | None | None | None | N |
K/I | 0.8393 | likely_pathogenic | 0.8682 | pathogenic | 0.37 | Stabilizing | 0.032 | N | 0.542 | neutral | D | 0.534328981 | None | None | N |
K/L | 0.8559 | likely_pathogenic | 0.8794 | pathogenic | 0.37 | Stabilizing | 0.514 | D | 0.59 | neutral | None | None | None | None | N |
K/M | 0.7034 | likely_pathogenic | 0.7546 | pathogenic | 0.192 | Stabilizing | 0.988 | D | 0.661 | neutral | None | None | None | None | N |
K/N | 0.9352 | likely_pathogenic | 0.9441 | pathogenic | 0.219 | Stabilizing | 0.99 | D | 0.677 | prob.neutral | N | 0.507608927 | None | None | N |
K/P | 0.9946 | likely_pathogenic | 0.9963 | pathogenic | 0.281 | Stabilizing | 0.993 | D | 0.711 | prob.delet. | None | None | None | None | N |
K/Q | 0.4203 | ambiguous | 0.4636 | ambiguous | 0.04 | Stabilizing | 0.99 | D | 0.689 | prob.neutral | N | 0.485363615 | None | None | N |
K/R | 0.1341 | likely_benign | 0.1396 | benign | 0.008 | Stabilizing | 0.966 | D | 0.597 | neutral | N | 0.499619983 | None | None | N |
K/S | 0.8887 | likely_pathogenic | 0.9109 | pathogenic | -0.26 | Destabilizing | 0.926 | D | 0.647 | neutral | None | None | None | None | N |
K/T | 0.6661 | likely_pathogenic | 0.7077 | pathogenic | -0.126 | Destabilizing | 0.942 | D | 0.684 | prob.neutral | N | 0.497644973 | None | None | N |
K/V | 0.7216 | likely_pathogenic | 0.7717 | pathogenic | 0.281 | Stabilizing | 0.514 | D | 0.601 | neutral | None | None | None | None | N |
K/W | 0.9839 | likely_pathogenic | 0.987 | pathogenic | -0.322 | Destabilizing | 0.998 | D | 0.732 | prob.delet. | None | None | None | None | N |
K/Y | 0.9595 | likely_pathogenic | 0.9686 | pathogenic | 0.051 | Stabilizing | 0.978 | D | 0.724 | prob.delet. | 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.