Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34432 | 103519;103520;103521 | chr2:178533321;178533320;178533319 | chr2:179398048;179398047;179398046 |
| N2AB | 32791 | 98596;98597;98598 | chr2:178533321;178533320;178533319 | chr2:179398048;179398047;179398046 |
| N2A | 31864 | 95815;95816;95817 | chr2:178533321;178533320;178533319 | chr2:179398048;179398047;179398046 |
| N2B | 25367 | 76324;76325;76326 | chr2:178533321;178533320;178533319 | chr2:179398048;179398047;179398046 |
| Novex-1 | 25492 | 76699;76700;76701 | chr2:178533321;178533320;178533319 | chr2:179398048;179398047;179398046 |
| Novex-2 | 25559 | 76900;76901;76902 | chr2:178533321;178533320;178533319 | chr2:179398048;179398047;179398046 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1236834777  |
None | 1.0 | D | 0.851 | 0.857 | 0.738786029931 | gnomAD-4.0.0 | 6.36476E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.10902E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | None | None | 0.949 | D | 0.694 | 0.849 | 0.612591404863 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| G/V | rs1236834777 |
0.261 | 1.0 | D | 0.854 | 0.875 | 0.807277569414 | 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 |
| G/V | rs1236834777 |
0.261 | 1.0 | D | 0.854 | 0.875 | 0.807277569414 | gnomAD-4.0.0 | 1.59119E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8577E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8002 | likely_pathogenic | 0.7567 | pathogenic | -0.644 | Destabilizing | 0.997 | D | 0.798 | deleterious | D | 0.564266785 | None | None | N |
| G/C | 0.9849 | likely_pathogenic | 0.9776 | pathogenic | -0.628 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.666912127 | None | None | N |
| G/D | 0.9924 | likely_pathogenic | 0.991 | pathogenic | -1.722 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.618420075 | None | None | N |
| G/E | 0.9974 | likely_pathogenic | 0.9968 | pathogenic | -1.61 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/F | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -0.72 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/H | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | -1.78 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/I | 0.9989 | likely_pathogenic | 0.9983 | pathogenic | 0.285 | Stabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| G/K | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -0.953 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/L | 0.9983 | likely_pathogenic | 0.9977 | pathogenic | 0.285 | Stabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/M | 0.9994 | likely_pathogenic | 0.999 | pathogenic | 0.278 | Stabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/N | 0.997 | likely_pathogenic | 0.9956 | pathogenic | -0.994 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/P | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | 0.018 | Stabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/Q | 0.998 | likely_pathogenic | 0.9975 | pathogenic | -0.902 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/R | 0.9953 | likely_pathogenic | 0.9944 | pathogenic | -1.034 | Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.666912127 | None | None | N |
| G/S | 0.8977 | likely_pathogenic | 0.8581 | pathogenic | -1.311 | Destabilizing | 0.949 | D | 0.694 | prob.neutral | D | 0.640768602 | None | None | N |
| G/T | 0.9935 | likely_pathogenic | 0.9899 | pathogenic | -1.098 | Destabilizing | 0.999 | D | 0.865 | deleterious | None | None | None | None | N |
| G/V | 0.9962 | likely_pathogenic | 0.9942 | pathogenic | 0.018 | Stabilizing | 1.0 | D | 0.854 | deleterious | D | 0.666912127 | None | None | N |
| G/W | 0.9989 | likely_pathogenic | 0.9987 | pathogenic | -1.501 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/Y | 0.9992 | likely_pathogenic | 0.9989 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.847 | 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.