Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28869 | 86830;86831;86832 | chr2:178559527;178559526;178559525 | chr2:179424254;179424253;179424252 |
| N2AB | 27228 | 81907;81908;81909 | chr2:178559527;178559526;178559525 | chr2:179424254;179424253;179424252 |
| N2A | 26301 | 79126;79127;79128 | chr2:178559527;178559526;178559525 | chr2:179424254;179424253;179424252 |
| N2B | 19804 | 59635;59636;59637 | chr2:178559527;178559526;178559525 | chr2:179424254;179424253;179424252 |
| Novex-1 | 19929 | 60010;60011;60012 | chr2:178559527;178559526;178559525 | chr2:179424254;179424253;179424252 |
| Novex-2 | 19996 | 60211;60212;60213 | chr2:178559527;178559526;178559525 | chr2:179424254;179424253;179424252 |
| 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/R | None | None | 1.0 | D | 0.881 | 0.62 | 0.703389443201 | gnomAD-4.0.0 | 1.59134E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02425E-05 |
| P/S | rs1702825954  |
None | 1.0 | N | 0.839 | 0.505 | 0.417586769301 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs1702825954 |
None | 1.0 | N | 0.839 | 0.505 | 0.417586769301 | gnomAD-4.0.0 | 6.57229E-06 | None | None | None | None | N | None | 2.41348E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7717 | likely_pathogenic | 0.7614 | pathogenic | -1.948 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.53327669 | None | None | N |
| P/C | 0.9742 | likely_pathogenic | 0.9743 | pathogenic | -1.361 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/D | 0.9984 | likely_pathogenic | 0.9985 | pathogenic | -2.424 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/E | 0.9947 | likely_pathogenic | 0.9945 | pathogenic | -2.368 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| P/F | 0.9979 | likely_pathogenic | 0.9977 | pathogenic | -1.431 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| P/G | 0.9802 | likely_pathogenic | 0.9813 | pathogenic | -2.341 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/H | 0.9918 | likely_pathogenic | 0.9914 | pathogenic | -2.047 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.545811537 | None | None | N |
| P/I | 0.9846 | likely_pathogenic | 0.9848 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/K | 0.9977 | likely_pathogenic | 0.9977 | pathogenic | -1.745 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/L | 0.908 | likely_pathogenic | 0.9091 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.532516221 | None | None | N |
| P/M | 0.9827 | likely_pathogenic | 0.9833 | pathogenic | -0.674 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/N | 0.997 | likely_pathogenic | 0.9971 | pathogenic | -1.63 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| P/Q | 0.9866 | likely_pathogenic | 0.9857 | pathogenic | -1.742 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/R | 0.9908 | likely_pathogenic | 0.9904 | pathogenic | -1.257 | Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.534037158 | None | None | N |
| P/S | 0.9448 | likely_pathogenic | 0.9446 | pathogenic | -2.114 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | N | 0.495168849 | None | None | N |
| P/T | 0.9265 | likely_pathogenic | 0.9277 | pathogenic | -1.95 | Destabilizing | 1.0 | D | 0.839 | deleterious | N | 0.518553023 | None | None | N |
| P/V | 0.9543 | likely_pathogenic | 0.9537 | pathogenic | -1.232 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/W | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -1.775 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/Y | 0.9984 | likely_pathogenic | 0.9984 | pathogenic | -1.494 | Destabilizing | 1.0 | D | 0.879 | 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.