Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6901 | 20926;20927;20928 | chr2:178725503;178725502;178725501 | chr2:179590230;179590229;179590228 |
| N2AB | 6584 | 19975;19976;19977 | chr2:178725503;178725502;178725501 | chr2:179590230;179590229;179590228 |
| N2A | 5657 | 17194;17195;17196 | chr2:178725503;178725502;178725501 | chr2:179590230;179590229;179590228 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | rs1402912841  |
None | 0.427 | N | 0.601 | 0.302 | 0.480497669815 | gnomAD-4.0.0 | 6.8441E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16015E-05 | 0 |
| I/T | rs770055282 |
-2.714 | None | N | 0.306 | 0.395 | 0.573784085325 | gnomAD-2.1.1 | 5.23E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.92542E-04 | None | 0 | 0 | 1.65893E-04 |
| I/T | rs770055282 |
-2.714 | None | N | 0.306 | 0.395 | 0.573784085325 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.14079E-04 | 0 |
| I/T | rs770055282 |
-2.714 | None | N | 0.306 | 0.395 | 0.573784085325 | gnomAD-4.0.0 | 2.6034E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.64528E-04 | 8.47785E-07 | 4.06424E-04 | 4.8043E-05 |
| I/V | None | None | None | N | 0.169 | 0.139 | 0.559541123154 | gnomAD-4.0.0 | 1.59219E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.2271 | likely_benign | 0.223 | benign | -2.242 | Highly Destabilizing | 0.055 | N | 0.455 | neutral | None | None | None | None | N |
| I/C | 0.5007 | ambiguous | 0.4593 | ambiguous | -1.505 | Destabilizing | 0.883 | D | 0.643 | neutral | None | None | None | None | N |
| I/D | 0.6091 | likely_pathogenic | 0.636 | pathogenic | -1.891 | Destabilizing | 0.22 | N | 0.677 | prob.neutral | None | None | None | None | N |
| I/E | 0.4531 | ambiguous | 0.4926 | ambiguous | -1.74 | Destabilizing | 0.22 | N | 0.634 | neutral | None | None | None | None | N |
| I/F | 0.1446 | likely_benign | 0.1379 | benign | -1.378 | Destabilizing | 0.175 | N | 0.585 | neutral | N | 0.520186247 | None | None | N |
| I/G | 0.5083 | ambiguous | 0.5053 | ambiguous | -2.732 | Highly Destabilizing | 0.22 | N | 0.618 | neutral | None | None | None | None | N |
| I/H | 0.3776 | ambiguous | 0.3819 | ambiguous | -2.064 | Highly Destabilizing | 0.667 | D | 0.661 | neutral | None | None | None | None | N |
| I/K | 0.2933 | likely_benign | 0.3427 | ambiguous | -1.604 | Destabilizing | 0.124 | N | 0.609 | neutral | None | None | None | None | N |
| I/L | 0.1121 | likely_benign | 0.1039 | benign | -0.875 | Destabilizing | 0.019 | N | 0.353 | neutral | N | 0.4832997 | None | None | N |
| I/M | 0.0945 | likely_benign | 0.0911 | benign | -0.757 | Destabilizing | 0.427 | N | 0.601 | neutral | N | 0.50419234 | None | None | N |
| I/N | 0.1811 | likely_benign | 0.1963 | benign | -1.689 | Destabilizing | 0.175 | N | 0.686 | prob.neutral | D | 0.528083493 | None | None | N |
| I/P | 0.8397 | likely_pathogenic | 0.862 | pathogenic | -1.305 | Destabilizing | 0.667 | D | 0.706 | prob.neutral | None | None | None | None | N |
| I/Q | 0.3357 | likely_benign | 0.3626 | ambiguous | -1.656 | Destabilizing | 0.497 | N | 0.706 | prob.neutral | None | None | None | None | N |
| I/R | 0.2215 | likely_benign | 0.2529 | benign | -1.229 | Destabilizing | None | N | 0.44 | neutral | None | None | None | None | N |
| I/S | 0.1782 | likely_benign | 0.1785 | benign | -2.447 | Highly Destabilizing | 0.096 | N | 0.594 | neutral | N | 0.504445829 | None | None | N |
| I/T | 0.0947 | likely_benign | 0.1027 | benign | -2.152 | Highly Destabilizing | None | N | 0.306 | neutral | N | 0.51545974 | None | None | N |
| I/V | 0.0748 | likely_benign | 0.0696 | benign | -1.305 | Destabilizing | None | N | 0.169 | neutral | N | 0.491036776 | None | None | N |
| I/W | 0.6486 | likely_pathogenic | 0.638 | pathogenic | -1.638 | Destabilizing | 0.002 | N | 0.495 | neutral | None | None | None | None | N |
| I/Y | 0.3438 | ambiguous | 0.3411 | ambiguous | -1.361 | Destabilizing | 0.497 | N | 0.688 | prob.neutral | 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.