Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30468 | 91627;91628;91629 | chr2:178551129;178551128;178551127 | chr2:179415856;179415855;179415854 |
| N2AB | 28827 | 86704;86705;86706 | chr2:178551129;178551128;178551127 | chr2:179415856;179415855;179415854 |
| N2A | 27900 | 83923;83924;83925 | chr2:178551129;178551128;178551127 | chr2:179415856;179415855;179415854 |
| N2B | 21403 | 64432;64433;64434 | chr2:178551129;178551128;178551127 | chr2:179415856;179415855;179415854 |
| Novex-1 | 21528 | 64807;64808;64809 | chr2:178551129;178551128;178551127 | chr2:179415856;179415855;179415854 |
| Novex-2 | 21595 | 65008;65009;65010 | chr2:178551129;178551128;178551127 | chr2:179415856;179415855;179415854 |
| 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 | D | 0.669 | 0.523 | 0.823209650288 | gnomAD-4.0.0 | 3.18384E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71847E-06 | 0 | 0 |
| W/R | None | None | 1.0 | D | 0.75 | 0.66 | 0.821990580909 | gnomAD-4.0.0 | 1.5919E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77886E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9936 | likely_pathogenic | 0.9968 | pathogenic | -3.003 | Highly Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| W/C | 0.9984 | likely_pathogenic | 0.9991 | pathogenic | -1.117 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | D | 0.549776967 | None | None | N |
| W/D | 0.9983 | likely_pathogenic | 0.999 | pathogenic | -1.807 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| W/E | 0.9988 | likely_pathogenic | 0.9993 | pathogenic | -1.755 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| W/F | 0.6594 | likely_pathogenic | 0.7024 | pathogenic | -1.912 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | N |
| W/G | 0.9797 | likely_pathogenic | 0.9881 | pathogenic | -3.18 | Highly Destabilizing | 1.0 | D | 0.669 | neutral | D | 0.537406703 | None | None | N |
| W/H | 0.9939 | likely_pathogenic | 0.996 | pathogenic | -1.5 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| W/I | 0.9924 | likely_pathogenic | 0.9954 | pathogenic | -2.359 | Highly Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| W/K | 0.9994 | likely_pathogenic | 0.9997 | pathogenic | -1.496 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| W/L | 0.9805 | likely_pathogenic | 0.9879 | pathogenic | -2.359 | Highly Destabilizing | 1.0 | D | 0.669 | neutral | D | 0.525125345 | None | None | N |
| W/M | 0.9935 | likely_pathogenic | 0.9958 | pathogenic | -1.702 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| W/N | 0.9978 | likely_pathogenic | 0.9987 | pathogenic | -1.776 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| W/P | 0.9942 | likely_pathogenic | 0.9968 | pathogenic | -2.589 | Highly Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9994 | likely_pathogenic | 0.9997 | pathogenic | -1.844 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| W/R | 0.9989 | likely_pathogenic | 0.9994 | pathogenic | -0.825 | Destabilizing | 1.0 | D | 0.75 | deleterious | D | 0.549269988 | None | None | N |
| W/S | 0.9916 | likely_pathogenic | 0.9956 | pathogenic | -2.167 | Highly Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.535885766 | None | None | N |
| W/T | 0.9951 | likely_pathogenic | 0.9975 | pathogenic | -2.072 | Highly Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| W/V | 0.9928 | likely_pathogenic | 0.9958 | pathogenic | -2.589 | Highly Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| W/Y | 0.8722 | likely_pathogenic | 0.8932 | pathogenic | -1.737 | Destabilizing | 1.0 | D | 0.595 | neutral | 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.