Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30031 | 90316;90317;90318 | chr2:178552809;178552808;178552807 | chr2:179417536;179417535;179417534 |
| N2AB | 28390 | 85393;85394;85395 | chr2:178552809;178552808;178552807 | chr2:179417536;179417535;179417534 |
| N2A | 27463 | 82612;82613;82614 | chr2:178552809;178552808;178552807 | chr2:179417536;179417535;179417534 |
| N2B | 20966 | 63121;63122;63123 | chr2:178552809;178552808;178552807 | chr2:179417536;179417535;179417534 |
| Novex-1 | 21091 | 63496;63497;63498 | chr2:178552809;178552808;178552807 | chr2:179417536;179417535;179417534 |
| Novex-2 | 21158 | 63697;63698;63699 | chr2:178552809;178552808;178552807 | chr2:179417536;179417535;179417534 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs538582097  |
-2.555 | 1.0 | D | 0.786 | 0.705 | 0.764696106459 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs538582097 |
-2.555 | 1.0 | D | 0.786 | 0.705 | 0.764696106459 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| P/S | rs538582097 |
-2.555 | 1.0 | D | 0.786 | 0.705 | 0.764696106459 | gnomAD-4.0.0 | 2.02964E-06 | None | None | None | None | N | None | 0 | 6.14477E-05 | None | 0 | 0 | None | 0 | 0 | 1.20493E-06 | 0 | 0 |
| P/T | rs538582097 |
-2.363 | 1.0 | D | 0.806 | 0.696 | 0.784462303736 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9067 | likely_pathogenic | 0.8575 | pathogenic | -1.959 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.643968905 | None | None | N |
| P/C | 0.9936 | likely_pathogenic | 0.9891 | pathogenic | -1.993 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| P/D | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -3.15 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/E | 0.9978 | likely_pathogenic | 0.9969 | pathogenic | -3.049 | Highly Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| P/F | 0.9994 | likely_pathogenic | 0.9991 | pathogenic | -1.294 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| P/G | 0.9943 | likely_pathogenic | 0.9917 | pathogenic | -2.332 | Highly Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| P/H | 0.9981 | likely_pathogenic | 0.9967 | pathogenic | -1.797 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/I | 0.9913 | likely_pathogenic | 0.9862 | pathogenic | -0.964 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| P/K | 0.9988 | likely_pathogenic | 0.9982 | pathogenic | -1.662 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/L | 0.9595 | likely_pathogenic | 0.9398 | pathogenic | -0.964 | Destabilizing | 1.0 | D | 0.824 | deleterious | D | 0.615351932 | None | None | N |
| P/M | 0.9954 | likely_pathogenic | 0.9922 | pathogenic | -1.167 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| P/N | 0.9991 | likely_pathogenic | 0.9987 | pathogenic | -1.903 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| P/Q | 0.9968 | likely_pathogenic | 0.9948 | pathogenic | -1.988 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.660825843 | None | None | N |
| P/R | 0.9954 | likely_pathogenic | 0.9928 | pathogenic | -1.241 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.660624039 | None | None | N |
| P/S | 0.9901 | likely_pathogenic | 0.9831 | pathogenic | -2.343 | Highly Destabilizing | 1.0 | D | 0.786 | deleterious | D | 0.644170709 | None | None | N |
| P/T | 0.9843 | likely_pathogenic | 0.9725 | pathogenic | -2.135 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.644372514 | None | None | N |
| P/V | 0.9756 | likely_pathogenic | 0.9623 | pathogenic | -1.269 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -1.645 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| P/Y | 0.9996 | likely_pathogenic | 0.9993 | pathogenic | -1.35 | Destabilizing | 1.0 | D | 0.832 | 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.