Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9704 | 29335;29336;29337 | chr2:178706886;178706885;178706884 | chr2:179571613;179571612;179571611 |
| N2AB | 9387 | 28384;28385;28386 | chr2:178706886;178706885;178706884 | chr2:179571613;179571612;179571611 |
| N2A | 8460 | 25603;25604;25605 | chr2:178706886;178706885;178706884 | chr2:179571613;179571612;179571611 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/L | rs1344682490  |
None | 0.999 | None | 0.825 | 0.363 | 0.399596177874 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92604E-04 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs1344682490 |
None | 0.999 | None | 0.825 | 0.363 | 0.399596177874 | gnomAD-4.0.0 | 3.72096E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.22916E-05 | None | 0 | 0 | 4.23993E-06 | 0 | 0 |
| P/S | rs1473433832 |
-1.413 | 0.999 | None | 0.777 | 0.441 | 0.348983352498 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 2.92E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs1473433832 |
-1.413 | 0.999 | None | 0.777 | 0.441 | 0.348983352498 | gnomAD-4.0.0 | 1.36958E-06 | None | None | None | None | N | None | 0 | 2.24326E-05 | None | 0 | 0 | None | 0 | 0 | 8.99892E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8849 | likely_pathogenic | 0.7748 | pathogenic | -1.485 | Destabilizing | 0.998 | D | 0.643 | neutral | None | None | None | None | N |
| P/C | 0.993 | likely_pathogenic | 0.9854 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| P/D | 0.9989 | likely_pathogenic | 0.9971 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| P/E | 0.9981 | likely_pathogenic | 0.9938 | pathogenic | -0.927 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| P/F | 0.9989 | likely_pathogenic | 0.9948 | pathogenic | -0.788 | Destabilizing | 0.998 | D | 0.863 | deleterious | None | None | None | None | N |
| P/G | 0.9894 | likely_pathogenic | 0.9726 | pathogenic | -1.986 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| P/H | 0.9977 | likely_pathogenic | 0.9913 | pathogenic | -1.633 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/I | 0.9801 | likely_pathogenic | 0.9414 | pathogenic | -0.128 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/K | 0.9984 | likely_pathogenic | 0.9944 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| P/L | 0.9241 | likely_pathogenic | 0.7806 | pathogenic | -0.128 | Destabilizing | 0.999 | D | 0.825 | deleterious | None | None | None | None | N |
| P/M | 0.9911 | likely_pathogenic | 0.9689 | pathogenic | -0.242 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/N | 0.9981 | likely_pathogenic | 0.994 | pathogenic | -1.049 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/Q | 0.9971 | likely_pathogenic | 0.9874 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| P/R | 0.9967 | likely_pathogenic | 0.9875 | pathogenic | -0.881 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/S | 0.9903 | likely_pathogenic | 0.9689 | pathogenic | -1.783 | Destabilizing | 0.999 | D | 0.777 | deleterious | None | None | None | None | N |
| P/T | 0.977 | likely_pathogenic | 0.9325 | pathogenic | -1.449 | Destabilizing | 0.999 | D | 0.783 | deleterious | None | None | None | None | N |
| P/V | 0.9621 | likely_pathogenic | 0.9029 | pathogenic | -0.548 | Destabilizing | 0.999 | D | 0.798 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9989 | pathogenic | -1.157 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/Y | 0.9994 | likely_pathogenic | 0.9972 | pathogenic | -0.74 | Destabilizing | 0.91 | D | 0.606 | 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.