Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29913 | 89962;89963;89964 | chr2:178553163;178553162;178553161 | chr2:179417890;179417889;179417888 |
| N2AB | 28272 | 85039;85040;85041 | chr2:178553163;178553162;178553161 | chr2:179417890;179417889;179417888 |
| N2A | 27345 | 82258;82259;82260 | chr2:178553163;178553162;178553161 | chr2:179417890;179417889;179417888 |
| N2B | 20848 | 62767;62768;62769 | chr2:178553163;178553162;178553161 | chr2:179417890;179417889;179417888 |
| Novex-1 | 20973 | 63142;63143;63144 | chr2:178553163;178553162;178553161 | chr2:179417890;179417889;179417888 |
| Novex-2 | 21040 | 63343;63344;63345 | chr2:178553163;178553162;178553161 | chr2:179417890;179417889;179417888 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs1222720970  |
-0.074 | 0.998 | D | 0.735 | 0.435 | 0.627088449377 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 1.29182E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| T/I | rs1222720970 |
-0.074 | 0.998 | D | 0.735 | 0.435 | 0.627088449377 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs1222720970 |
-0.074 | 0.998 | D | 0.735 | 0.435 | 0.627088449377 | gnomAD-4.0.0 | 8.67716E-06 | None | None | None | None | N | None | 4.0032E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 9.32567E-06 | 0 | 0 |
| T/R | None | None | 0.989 | D | 0.704 | 0.467 | 0.733834204116 | gnomAD-4.0.0 | 1.36872E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31911E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1205 | likely_benign | 0.1182 | benign | -1.169 | Destabilizing | 0.91 | D | 0.629 | neutral | N | 0.507786737 | None | None | N |
| T/C | 0.4092 | ambiguous | 0.403 | ambiguous | -0.999 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| T/D | 0.5807 | likely_pathogenic | 0.5387 | ambiguous | -1.131 | Destabilizing | 0.942 | D | 0.673 | neutral | None | None | None | None | N |
| T/E | 0.365 | ambiguous | 0.3291 | benign | -1.026 | Destabilizing | 0.155 | N | 0.412 | neutral | None | None | None | None | N |
| T/F | 0.2958 | likely_benign | 0.2879 | benign | -0.988 | Destabilizing | 0.999 | D | 0.809 | deleterious | None | None | None | None | N |
| T/G | 0.4071 | ambiguous | 0.3876 | ambiguous | -1.506 | Destabilizing | 0.985 | D | 0.741 | deleterious | None | None | None | None | N |
| T/H | 0.2479 | likely_benign | 0.2346 | benign | -1.674 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| T/I | 0.1941 | likely_benign | 0.187 | benign | -0.325 | Destabilizing | 0.998 | D | 0.735 | prob.delet. | D | 0.528037726 | None | None | N |
| T/K | 0.2734 | likely_benign | 0.2603 | benign | -0.803 | Destabilizing | 0.961 | D | 0.678 | prob.neutral | N | 0.517529944 | None | None | N |
| T/L | 0.1239 | likely_benign | 0.1148 | benign | -0.325 | Destabilizing | 0.985 | D | 0.674 | neutral | None | None | None | None | N |
| T/M | 0.0957 | likely_benign | 0.0938 | benign | -0.216 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| T/N | 0.1768 | likely_benign | 0.1708 | benign | -1.121 | Destabilizing | 0.985 | D | 0.633 | neutral | None | None | None | None | N |
| T/P | 0.8657 | likely_pathogenic | 0.8366 | pathogenic | -0.575 | Destabilizing | 0.998 | D | 0.703 | prob.neutral | D | 0.547162026 | None | None | N |
| T/Q | 0.2222 | likely_benign | 0.2063 | benign | -1.162 | Destabilizing | 0.991 | D | 0.701 | prob.neutral | None | None | None | None | N |
| T/R | 0.2311 | likely_benign | 0.2138 | benign | -0.734 | Destabilizing | 0.989 | D | 0.704 | prob.neutral | D | 0.532384754 | None | None | N |
| T/S | 0.1379 | likely_benign | 0.1376 | benign | -1.386 | Destabilizing | 0.91 | D | 0.65 | neutral | N | 0.48918873 | None | None | N |
| T/V | 0.1568 | likely_benign | 0.1515 | benign | -0.575 | Destabilizing | 0.985 | D | 0.63 | neutral | None | None | None | None | N |
| T/W | 0.6541 | likely_pathogenic | 0.6351 | pathogenic | -0.969 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| T/Y | 0.3316 | likely_benign | 0.3113 | benign | -0.676 | Destabilizing | 0.999 | D | 0.808 | 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.