Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20175 | 60748;60749;60750 | chr2:178591202;178591201;178591200 | chr2:179455929;179455928;179455927 |
| N2AB | 18534 | 55825;55826;55827 | chr2:178591202;178591201;178591200 | chr2:179455929;179455928;179455927 |
| N2A | 17607 | 53044;53045;53046 | chr2:178591202;178591201;178591200 | chr2:179455929;179455928;179455927 |
| N2B | 11110 | 33553;33554;33555 | chr2:178591202;178591201;178591200 | chr2:179455929;179455928;179455927 |
| Novex-1 | 11235 | 33928;33929;33930 | chr2:178591202;178591201;178591200 | chr2:179455929;179455928;179455927 |
| Novex-2 | 11302 | 34129;34130;34131 | chr2:178591202;178591201;178591200 | chr2:179455929;179455928;179455927 |
| 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 | rs771358314  |
-0.605 | 1.0 | D | 0.873 | 0.619 | 0.862337548322 | gnomAD-2.1.1 | 4.83E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.78E-05 | 1.65837E-04 |
| P/L | rs771358314 |
-0.605 | 1.0 | D | 0.873 | 0.619 | 0.862337548322 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/L | rs771358314 |
-0.605 | 1.0 | D | 0.873 | 0.619 | 0.862337548322 | gnomAD-4.0.0 | 3.28524E-05 | None | None | None | None | N | None | 0 | 1.668E-05 | None | 0 | 0 | None | 0 | 1.31579E-03 | 3.56063E-05 | 0 | 3.20287E-05 |
| P/R | None | None | 1.0 | D | 0.899 | 0.633 | 0.770159368578 | gnomAD-4.0.0 | 6.84344E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99609E-07 | 0 | 0 |
| P/S | rs774790016 |
-2.83 | 1.0 | D | 0.825 | 0.63 | 0.705224600542 | 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 |
| P/S | rs774790016 |
-2.83 | 1.0 | D | 0.825 | 0.63 | 0.705224600542 | gnomAD-4.0.0 | 1.59197E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43316E-05 | 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 | 0.6929 | likely_pathogenic | 0.6957 | pathogenic | -2.184 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.589315591 | None | None | N |
| P/C | 0.9385 | likely_pathogenic | 0.916 | pathogenic | -1.927 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/D | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | -3.339 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| P/E | 0.9971 | likely_pathogenic | 0.9983 | pathogenic | -3.12 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/F | 0.9986 | likely_pathogenic | 0.999 | pathogenic | -1.129 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/G | 0.9903 | likely_pathogenic | 0.9921 | pathogenic | -2.685 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/H | 0.997 | likely_pathogenic | 0.9981 | pathogenic | -2.509 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/I | 0.8556 | likely_pathogenic | 0.8747 | pathogenic | -0.765 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| P/K | 0.9982 | likely_pathogenic | 0.9989 | pathogenic | -1.914 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| P/L | 0.8792 | likely_pathogenic | 0.9004 | pathogenic | -0.765 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.634789503 | None | None | N |
| P/M | 0.9758 | likely_pathogenic | 0.9786 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/N | 0.9981 | likely_pathogenic | 0.9987 | pathogenic | -2.315 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/Q | 0.994 | likely_pathogenic | 0.9962 | pathogenic | -2.131 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.618537977 | None | None | N |
| P/R | 0.994 | likely_pathogenic | 0.9965 | pathogenic | -1.739 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.634991307 | None | None | N |
| P/S | 0.9651 | likely_pathogenic | 0.9722 | pathogenic | -2.793 | Highly Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.618537977 | None | None | N |
| P/T | 0.9075 | likely_pathogenic | 0.9264 | pathogenic | -2.455 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.634991307 | None | None | N |
| P/V | 0.6147 | likely_pathogenic | 0.6275 | pathogenic | -1.216 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -1.767 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/Y | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -1.444 | Destabilizing | 1.0 | D | 0.899 | 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.