Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27001 | 81226;81227;81228 | chr2:178565131;178565130;178565129 | chr2:179429858;179429857;179429856 |
| N2AB | 25360 | 76303;76304;76305 | chr2:178565131;178565130;178565129 | chr2:179429858;179429857;179429856 |
| N2A | 24433 | 73522;73523;73524 | chr2:178565131;178565130;178565129 | chr2:179429858;179429857;179429856 |
| N2B | 17936 | 54031;54032;54033 | chr2:178565131;178565130;178565129 | chr2:179429858;179429857;179429856 |
| Novex-1 | 18061 | 54406;54407;54408 | chr2:178565131;178565130;178565129 | chr2:179429858;179429857;179429856 |
| Novex-2 | 18128 | 54607;54608;54609 | chr2:178565131;178565130;178565129 | chr2:179429858;179429857;179429856 |
| 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/A | rs767825951  |
-0.3 | 1.0 | D | 0.719 | 0.728 | 0.404870348458 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| G/A | rs767825951 |
-0.3 | 1.0 | D | 0.719 | 0.728 | 0.404870348458 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | rs767825951 |
-0.3 | 1.0 | D | 0.719 | 0.728 | 0.404870348458 | gnomAD-4.0.0 | 2.56335E-06 | None | None | None | None | I | None | 1.69182E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39401E-06 | 0 | 0 |
| G/D | rs767825951 |
None | 1.0 | D | 0.833 | 0.727 | 0.440394187108 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| G/D | rs767825951 |
None | 1.0 | D | 0.833 | 0.727 | 0.440394187108 | gnomAD-4.0.0 | 1.59205E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85954E-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 | 0.9209 | likely_pathogenic | 0.9292 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | D | 0.527518428 | None | None | I |
| G/C | 0.9912 | likely_pathogenic | 0.9912 | pathogenic | -0.699 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.540142181 | None | None | I |
| G/D | 0.9956 | likely_pathogenic | 0.9967 | pathogenic | -0.293 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.52237664 | None | None | I |
| G/E | 0.9971 | likely_pathogenic | 0.9978 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/F | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -0.851 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/H | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -0.744 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/I | 0.9982 | likely_pathogenic | 0.9983 | pathogenic | -0.247 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/K | 0.9984 | likely_pathogenic | 0.9987 | pathogenic | -0.799 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/L | 0.9976 | likely_pathogenic | 0.9977 | pathogenic | -0.247 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/M | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -0.307 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/N | 0.997 | likely_pathogenic | 0.9976 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/P | 0.9988 | likely_pathogenic | 0.9989 | pathogenic | -0.253 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| G/Q | 0.9977 | likely_pathogenic | 0.9981 | pathogenic | -0.616 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | I |
| G/R | 0.9933 | likely_pathogenic | 0.9944 | pathogenic | -0.459 | Destabilizing | 1.0 | D | 0.837 | deleterious | N | 0.509160684 | None | None | I |
| G/S | 0.9356 | likely_pathogenic | 0.9413 | pathogenic | -0.682 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.526250981 | None | None | I |
| G/T | 0.9922 | likely_pathogenic | 0.9926 | pathogenic | -0.702 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/V | 0.9948 | likely_pathogenic | 0.9952 | pathogenic | -0.253 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.551156092 | None | None | I |
| G/W | 0.9965 | likely_pathogenic | 0.9968 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| G/Y | 0.9984 | likely_pathogenic | 0.9985 | pathogenic | -0.703 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
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.