Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1627 | 5104;5105;5106 | chr2:178776985;178776984;178776983 | chr2:179641712;179641711;179641710 |
| N2AB | 1627 | 5104;5105;5106 | chr2:178776985;178776984;178776983 | chr2:179641712;179641711;179641710 |
| N2A | 1627 | 5104;5105;5106 | chr2:178776985;178776984;178776983 | chr2:179641712;179641711;179641710 |
| N2B | 1581 | 4966;4967;4968 | chr2:178776985;178776984;178776983 | chr2:179641712;179641711;179641710 |
| Novex-1 | 1581 | 4966;4967;4968 | chr2:178776985;178776984;178776983 | chr2:179641712;179641711;179641710 |
| Novex-2 | 1581 | 4966;4967;4968 | chr2:178776985;178776984;178776983 | chr2:179641712;179641711;179641710 |
| Novex-3 | 1627 | 5104;5105;5106 | chr2:178776985;178776984;178776983 | chr2:179641712;179641711;179641710 |
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/R | None | None | 1.0 | N | 0.797 | 0.698 | 0.685966507736 | gnomAD-4.0.0 | 1.59079E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 0 |
| W/S | None | None | 1.0 | N | 0.794 | 0.55 | 0.837971455066 | gnomAD-4.0.0 | 1.59083E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85664E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9842 | likely_pathogenic | 0.9735 | pathogenic | -2.408 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| W/C | 0.9954 | likely_pathogenic | 0.9886 | pathogenic | -0.724 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.603468741 | None | None | N |
| W/D | 0.9983 | likely_pathogenic | 0.9966 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| W/E | 0.9987 | likely_pathogenic | 0.9976 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| W/F | 0.7197 | likely_pathogenic | 0.6622 | pathogenic | -1.574 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| W/G | 0.9763 | likely_pathogenic | 0.9622 | pathogenic | -2.606 | Highly Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.559336177 | None | None | N |
| W/H | 0.9925 | likely_pathogenic | 0.9875 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| W/I | 0.9808 | likely_pathogenic | 0.9623 | pathogenic | -1.738 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| W/K | 0.9993 | likely_pathogenic | 0.9985 | pathogenic | -0.856 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| W/L | 0.9483 | likely_pathogenic | 0.9069 | pathogenic | -1.738 | Destabilizing | 1.0 | D | 0.747 | deleterious | N | 0.483582931 | None | None | N |
| W/M | 0.9879 | likely_pathogenic | 0.9756 | pathogenic | -1.193 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| W/N | 0.9944 | likely_pathogenic | 0.9893 | pathogenic | -1.032 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| W/P | 0.9971 | likely_pathogenic | 0.9954 | pathogenic | -1.969 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| W/Q | 0.999 | likely_pathogenic | 0.9978 | pathogenic | -1.037 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| W/R | 0.9979 | likely_pathogenic | 0.996 | pathogenic | -0.351 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.494264871 | None | None | N |
| W/S | 0.969 | likely_pathogenic | 0.9479 | pathogenic | -1.581 | Destabilizing | 1.0 | D | 0.794 | deleterious | N | 0.502694325 | None | None | N |
| W/T | 0.9806 | likely_pathogenic | 0.9653 | pathogenic | -1.477 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| W/V | 0.9721 | likely_pathogenic | 0.946 | pathogenic | -1.969 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| W/Y | 0.8578 | likely_pathogenic | 0.8293 | pathogenic | -1.47 | Destabilizing | 1.0 | D | 0.658 | 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.