Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35191 | 105796;105797;105798 | chr2:178531044;178531043;178531042 | chr2:179395771;179395770;179395769 |
| N2AB | 33550 | 100873;100874;100875 | chr2:178531044;178531043;178531042 | chr2:179395771;179395770;179395769 |
| N2A | 32623 | 98092;98093;98094 | chr2:178531044;178531043;178531042 | chr2:179395771;179395770;179395769 |
| N2B | 26126 | 78601;78602;78603 | chr2:178531044;178531043;178531042 | chr2:179395771;179395770;179395769 |
| Novex-1 | 26251 | 78976;78977;78978 | chr2:178531044;178531043;178531042 | chr2:179395771;179395770;179395769 |
| Novex-2 | 26318 | 79177;79178;79179 | chr2:178531044;178531043;178531042 | chr2:179395771;179395770;179395769 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.999 | N | 0.543 | 0.486 | 0.673800983336 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| V/I | rs1290162863  |
-0.746 | 0.997 | D | 0.523 | 0.369 | 0.685586197109 | gnomAD-2.1.1 | 7.13E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.56E-05 | 0 |
| V/I | rs1290162863 |
-0.746 | 0.997 | D | 0.523 | 0.369 | 0.685586197109 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/I | rs1290162863 |
-0.746 | 0.997 | D | 0.523 | 0.369 | 0.685586197109 | gnomAD-4.0.0 | 2.35457E-05 | None | None | None | None | N | None | 1.33504E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.96635E-05 | 0 | 3.20174E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3572 | ambiguous | 0.4877 | ambiguous | -2.129 | Highly Destabilizing | 0.999 | D | 0.543 | neutral | N | 0.449366299 | None | None | N |
| V/C | 0.9053 | likely_pathogenic | 0.9335 | pathogenic | -2.488 | Highly Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| V/D | 0.9798 | likely_pathogenic | 0.9912 | pathogenic | -3.219 | Highly Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.555184785 | None | None | N |
| V/E | 0.9524 | likely_pathogenic | 0.9743 | pathogenic | -3.106 | Highly Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| V/F | 0.7104 | likely_pathogenic | 0.8323 | pathogenic | -1.52 | Destabilizing | 1.0 | D | 0.788 | deleterious | N | 0.516569965 | None | None | N |
| V/G | 0.7037 | likely_pathogenic | 0.8155 | pathogenic | -2.515 | Highly Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.54357499 | None | None | N |
| V/H | 0.9877 | likely_pathogenic | 0.9948 | pathogenic | -1.869 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| V/I | 0.1256 | likely_benign | 0.147 | benign | -1.094 | Destabilizing | 0.997 | D | 0.523 | neutral | D | 0.52780844 | None | None | N |
| V/K | 0.9648 | likely_pathogenic | 0.9825 | pathogenic | -1.896 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| V/L | 0.4757 | ambiguous | 0.5802 | pathogenic | -1.094 | Destabilizing | 0.997 | D | 0.557 | neutral | D | 0.53185161 | None | None | N |
| V/M | 0.4819 | ambiguous | 0.6061 | pathogenic | -1.428 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| V/N | 0.942 | likely_pathogenic | 0.9716 | pathogenic | -2.189 | Highly Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| V/P | 0.8588 | likely_pathogenic | 0.9216 | pathogenic | -1.413 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| V/Q | 0.9443 | likely_pathogenic | 0.9706 | pathogenic | -2.278 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| V/R | 0.9356 | likely_pathogenic | 0.9656 | pathogenic | -1.431 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| V/S | 0.7146 | likely_pathogenic | 0.8201 | pathogenic | -2.705 | Highly Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| V/T | 0.5234 | ambiguous | 0.6138 | pathogenic | -2.473 | Highly Destabilizing | 0.999 | D | 0.638 | neutral | None | None | None | None | N |
| V/W | 0.9921 | likely_pathogenic | 0.9968 | pathogenic | -1.794 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| V/Y | 0.9741 | likely_pathogenic | 0.9886 | pathogenic | -1.501 | Destabilizing | 1.0 | D | 0.794 | 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.