Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23174 | 69745;69746;69747 | chr2:178576724;178576723;178576722 | chr2:179441451;179441450;179441449 |
| N2AB | 21533 | 64822;64823;64824 | chr2:178576724;178576723;178576722 | chr2:179441451;179441450;179441449 |
| N2A | 20606 | 62041;62042;62043 | chr2:178576724;178576723;178576722 | chr2:179441451;179441450;179441449 |
| N2B | 14109 | 42550;42551;42552 | chr2:178576724;178576723;178576722 | chr2:179441451;179441450;179441449 |
| Novex-1 | 14234 | 42925;42926;42927 | chr2:178576724;178576723;178576722 | chr2:179441451;179441450;179441449 |
| Novex-2 | 14301 | 43126;43127;43128 | chr2:178576724;178576723;178576722 | chr2:179441451;179441450;179441449 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs759352559  |
-1.704 | 1.0 | D | 0.881 | 0.86 | 0.870543350243 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| Y/C | rs759352559 |
-1.704 | 1.0 | D | 0.881 | 0.86 | 0.870543350243 | gnomAD-4.0.0 | 1.59168E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43299E-05 | 0 |
| Y/D | rs1472641158 |
-3.87 | 1.0 | D | 0.921 | 0.883 | 0.893637064799 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| Y/D | rs1472641158 |
-3.87 | 1.0 | D | 0.921 | 0.883 | 0.893637064799 | gnomAD-4.0.0 | 6.84288E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99572E-07 | 0 | 0 |
| Y/H | None | None | 1.0 | D | 0.819 | 0.848 | 0.7459921215 | gnomAD-4.0.0 | 1.36858E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79914E-06 | 0 | 0 |
| Y/N | None | None | 1.0 | D | 0.904 | 0.861 | 0.907494738665 | gnomAD-4.0.0 | 2.73715E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69872E-06 | 0 | 1.65689E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -3.583 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| Y/C | 0.9516 | likely_pathogenic | 0.9554 | pathogenic | -1.933 | Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.658138128 | None | None | N |
| Y/D | 0.9981 | likely_pathogenic | 0.9984 | pathogenic | -3.898 | Highly Destabilizing | 1.0 | D | 0.921 | deleterious | D | 0.658541736 | None | None | N |
| Y/E | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -3.679 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| Y/F | 0.3347 | likely_benign | 0.339 | benign | -1.503 | Destabilizing | 0.999 | D | 0.646 | neutral | D | 0.563386384 | None | None | N |
| Y/G | 0.9946 | likely_pathogenic | 0.995 | pathogenic | -3.986 | Highly Destabilizing | 1.0 | D | 0.934 | deleterious | None | None | None | None | N |
| Y/H | 0.9909 | likely_pathogenic | 0.9917 | pathogenic | -2.673 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.642118767 | None | None | N |
| Y/I | 0.9865 | likely_pathogenic | 0.9857 | pathogenic | -2.204 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| Y/K | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -2.53 | Highly Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| Y/L | 0.9678 | likely_pathogenic | 0.969 | pathogenic | -2.204 | Highly Destabilizing | 0.999 | D | 0.75 | deleterious | None | None | None | None | N |
| Y/M | 0.9923 | likely_pathogenic | 0.9928 | pathogenic | -1.889 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| Y/N | 0.9865 | likely_pathogenic | 0.9886 | pathogenic | -3.339 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | D | 0.658541736 | None | None | N |
| Y/P | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -2.684 | Highly Destabilizing | 1.0 | D | 0.943 | deleterious | None | None | None | None | N |
| Y/Q | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -3.074 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| Y/R | 0.9973 | likely_pathogenic | 0.9976 | pathogenic | -2.305 | Highly Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| Y/S | 0.9934 | likely_pathogenic | 0.9939 | pathogenic | -3.637 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | D | 0.658541736 | None | None | N |
| Y/T | 0.9981 | likely_pathogenic | 0.9983 | pathogenic | -3.3 | Highly Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| Y/V | 0.9822 | likely_pathogenic | 0.9817 | pathogenic | -2.684 | Highly Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| Y/W | 0.8665 | likely_pathogenic | 0.8618 | pathogenic | -0.708 | Destabilizing | 1.0 | D | 0.799 | 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.