Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3486 | 10681;10682;10683 | chr2:178757764;178757763;178757762 | chr2:179622491;179622490;179622489 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3440 | 10543;10544;10545 | chr2:178757764;178757763;178757762 | chr2:179622491;179622490;179622489 |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/E | rs374093805  |
-2.844 | None | None | None | 0.36 | None | 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/E | rs374093805 |
-2.844 | None | None | None | 0.36 | None | gnomAD-4.0.0 | 1.36845E-06 | None | None | None | None | N | None | 0 | 2.23614E-05 | None | 0 | 0 | None | 0 | 0 | 8.99509E-07 | 0 | 0 |
| A/T | rs2087755569 |
None | None | None | None | 0.266 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs2087755569 |
None | None | None | None | 0.266 | None | gnomAD-4.0.0 | 6.57298E-06 | None | None | None | None | N | None | 0 | 6.54879E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs374093805 |
-0.326 | None | None | None | 0.322 | None | gnomAD-2.1.1 | 1.67779E-04 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 1.4381E-03 | None | 0 | 7.81E-06 | 0 |
| A/V | rs374093805 |
-0.326 | None | None | None | 0.322 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.13736E-04 | 0 |
| A/V | rs374093805 |
-0.326 | None | None | None | 0.322 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| A/V | rs374093805 |
-0.326 | None | None | None | 0.322 | None | gnomAD-4.0.0 | 7.684E-05 | None | None | None | None | N | None | 7.99829E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 9.32414E-06 | 1.13087E-03 | 6.40205E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4966 | ambiguous | None | None | -1.247 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/D | 0.9906 | likely_pathogenic | None | None | -2.818 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| A/E | 0.9835 | likely_pathogenic | None | None | -2.594 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| A/F | 0.927 | likely_pathogenic | None | None | -0.76 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/G | 0.3262 | likely_benign | None | None | -1.808 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/H | 0.9877 | likely_pathogenic | None | None | -2.317 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| A/I | 0.7046 | likely_pathogenic | None | None | 0.036 | Stabilizing | None | None | None | None | None | None | None | None | N |
| A/K | 0.9952 | likely_pathogenic | None | None | -1.509 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/L | 0.6395 | likely_pathogenic | None | None | 0.036 | Stabilizing | None | None | None | None | None | None | None | None | N |
| A/M | 0.7548 | likely_pathogenic | None | None | -0.134 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/N | 0.9647 | likely_pathogenic | None | None | -1.864 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/P | 0.9877 | likely_pathogenic | None | None | -0.375 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Q | 0.9701 | likely_pathogenic | None | None | -1.622 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/R | 0.9839 | likely_pathogenic | None | None | -1.584 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/S | 0.2371 | likely_benign | None | None | -2.228 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| A/T | 0.2657 | likely_benign | None | None | -1.889 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/V | 0.3422 | ambiguous | None | None | -0.375 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/W | 0.9963 | likely_pathogenic | None | None | -1.664 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Y | 0.9803 | likely_pathogenic | None | None | -1.13 | Destabilizing | None | None | None | None | 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.