Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35443 | 106552;106553;106554 | chr2:178530288;178530287;178530286 | chr2:179395015;179395014;179395013 |
| N2AB | 33802 | 101629;101630;101631 | chr2:178530288;178530287;178530286 | chr2:179395015;179395014;179395013 |
| N2A | 32875 | 98848;98849;98850 | chr2:178530288;178530287;178530286 | chr2:179395015;179395014;179395013 |
| N2B | 26378 | 79357;79358;79359 | chr2:178530288;178530287;178530286 | chr2:179395015;179395014;179395013 |
| Novex-1 | 26503 | 79732;79733;79734 | chr2:178530288;178530287;178530286 | chr2:179395015;179395014;179395013 |
| Novex-2 | 26570 | 79933;79934;79935 | chr2:178530288;178530287;178530286 | chr2:179395015;179395014;179395013 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | None | None | 0.094 | N | 0.645 | 0.237 | 0.201204373187 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| A/T | rs1369230756  |
-1.176 | 0.011 | N | 0.601 | 0.138 | 0.296329037015 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs1369230756 |
-1.176 | 0.011 | N | 0.601 | 0.138 | 0.296329037015 | gnomAD-4.0.0 | 1.5929E-06 | None | None | None | None | N | None | 0 | 2.28749E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.6835 | likely_pathogenic | 0.6647 | pathogenic | -1.003 | Destabilizing | 0.326 | N | 0.695 | prob.neutral | None | None | None | None | N |
| A/D | 0.846 | likely_pathogenic | 0.8453 | pathogenic | -1.407 | Destabilizing | 0.268 | N | 0.787 | deleterious | D | 0.529413392 | None | None | N |
| A/E | 0.7328 | likely_pathogenic | 0.7317 | pathogenic | -1.288 | Destabilizing | 0.121 | N | 0.72 | prob.delet. | None | None | None | None | N |
| A/F | 0.5574 | ambiguous | 0.572 | pathogenic | -0.652 | Destabilizing | 0.193 | N | 0.789 | deleterious | None | None | None | None | N |
| A/G | 0.2335 | likely_benign | 0.2206 | benign | -1.343 | Destabilizing | 0.094 | N | 0.645 | neutral | N | 0.506536197 | None | None | N |
| A/H | 0.9182 | likely_pathogenic | 0.9152 | pathogenic | -1.644 | Destabilizing | 0.848 | D | 0.795 | deleterious | None | None | None | None | N |
| A/I | 0.2495 | likely_benign | 0.2415 | benign | 0.129 | Stabilizing | None | N | 0.455 | neutral | None | None | None | None | N |
| A/K | 0.9103 | likely_pathogenic | 0.9066 | pathogenic | -1.076 | Destabilizing | 0.121 | N | 0.717 | prob.delet. | None | None | None | None | N |
| A/L | 0.3014 | likely_benign | 0.3008 | benign | 0.129 | Stabilizing | None | N | 0.433 | neutral | None | None | None | None | N |
| A/M | 0.369 | ambiguous | 0.3767 | ambiguous | -0.104 | Destabilizing | 0.193 | N | 0.786 | deleterious | None | None | None | None | N |
| A/N | 0.7606 | likely_pathogenic | 0.7518 | pathogenic | -1.1 | Destabilizing | 0.596 | D | 0.804 | deleterious | None | None | None | None | N |
| A/P | 0.7385 | likely_pathogenic | 0.7246 | pathogenic | -0.178 | Destabilizing | 0.527 | D | 0.772 | deleterious | D | 0.533464976 | None | None | N |
| A/Q | 0.8164 | likely_pathogenic | 0.8107 | pathogenic | -1.015 | Destabilizing | 0.596 | D | 0.785 | deleterious | None | None | None | None | N |
| A/R | 0.8689 | likely_pathogenic | 0.8666 | pathogenic | -1.084 | Destabilizing | 0.326 | N | 0.781 | deleterious | None | None | None | None | N |
| A/S | 0.208 | likely_benign | 0.2004 | benign | -1.585 | Destabilizing | 0.049 | N | 0.611 | neutral | N | 0.48660829 | None | None | N |
| A/T | 0.1566 | likely_benign | 0.1545 | benign | -1.34 | Destabilizing | 0.011 | N | 0.601 | neutral | N | 0.484188754 | None | None | N |
| A/V | 0.1046 | likely_benign | 0.101 | benign | -0.178 | Destabilizing | None | N | 0.259 | neutral | N | 0.424726066 | None | None | N |
| A/W | 0.9301 | likely_pathogenic | 0.9294 | pathogenic | -1.244 | Destabilizing | 0.848 | D | 0.801 | deleterious | None | None | None | None | N |
| A/Y | 0.7851 | likely_pathogenic | 0.7807 | pathogenic | -0.71 | Destabilizing | 0.326 | N | 0.807 | 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.