Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1021 | 3286;3287;3288 | chr2:178782845;178782844;178782843 | chr2:179647572;179647571;179647570 |
| N2AB | 1021 | 3286;3287;3288 | chr2:178782845;178782844;178782843 | chr2:179647572;179647571;179647570 |
| N2A | 1021 | 3286;3287;3288 | chr2:178782845;178782844;178782843 | chr2:179647572;179647571;179647570 |
| N2B | 975 | 3148;3149;3150 | chr2:178782845;178782844;178782843 | chr2:179647572;179647571;179647570 |
| Novex-1 | 975 | 3148;3149;3150 | chr2:178782845;178782844;178782843 | chr2:179647572;179647571;179647570 |
| Novex-2 | 975 | 3148;3149;3150 | chr2:178782845;178782844;178782843 | chr2:179647572;179647571;179647570 |
| Novex-3 | 1021 | 3286;3287;3288 | chr2:178782845;178782844;178782843 | chr2:179647572;179647571;179647570 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | None | None | 1.0 | D | 0.787 | 0.517 | 0.807495684022 | gnomAD-4.0.0 | 1.59161E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85739E-06 | 0 | 0 |
| A/S | rs763746036  |
-0.047 | 1.0 | D | 0.627 | 0.472 | None | 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 |
| A/T | rs763746036 |
-0.137 | 1.0 | D | 0.697 | 0.419 | 0.436886369515 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.84E-06 | 0 |
| A/T | rs763746036 |
-0.137 | 1.0 | D | 0.697 | 0.419 | 0.436886369515 | gnomAD-4.0.0 | 1.59161E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8574E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8851 | likely_pathogenic | 0.9065 | pathogenic | -0.812 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| A/D | 0.7131 | likely_pathogenic | 0.8554 | pathogenic | -0.645 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.707176404 | None | None | I |
| A/E | 0.5949 | likely_pathogenic | 0.7623 | pathogenic | -0.801 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| A/F | 0.6102 | likely_pathogenic | 0.7274 | pathogenic | -0.938 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| A/G | 0.342 | ambiguous | 0.4269 | ambiguous | -0.221 | Destabilizing | 1.0 | D | 0.587 | neutral | D | 0.553873982 | None | None | I |
| A/H | 0.7807 | likely_pathogenic | 0.8385 | pathogenic | -0.216 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| A/I | 0.625 | likely_pathogenic | 0.7737 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| A/K | 0.7551 | likely_pathogenic | 0.8579 | pathogenic | -0.578 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| A/L | 0.5418 | ambiguous | 0.6806 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | I |
| A/M | 0.4987 | ambiguous | 0.6529 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| A/N | 0.6397 | likely_pathogenic | 0.7572 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| A/P | 0.9533 | likely_pathogenic | 0.9798 | pathogenic | -0.322 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | D | 0.707176404 | None | None | I |
| A/Q | 0.6349 | likely_pathogenic | 0.7332 | pathogenic | -0.542 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| A/R | 0.6697 | likely_pathogenic | 0.7851 | pathogenic | -0.113 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| A/S | 0.1706 | likely_benign | 0.2101 | benign | -0.416 | Destabilizing | 1.0 | D | 0.627 | neutral | D | 0.570061923 | None | None | I |
| A/T | 0.2729 | likely_benign | 0.4182 | ambiguous | -0.504 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | D | 0.639462161 | None | None | I |
| A/V | 0.3002 | likely_benign | 0.4395 | ambiguous | -0.322 | Destabilizing | 1.0 | D | 0.659 | neutral | N | 0.506029757 | None | None | I |
| A/W | 0.9406 | likely_pathogenic | 0.9694 | pathogenic | -1.037 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| A/Y | 0.772 | likely_pathogenic | 0.8407 | pathogenic | -0.719 | Destabilizing | 1.0 | D | 0.779 | 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.