Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32423 | 97492;97493;97494 | chr2:178542489;178542488;178542487 | chr2:179407216;179407215;179407214 |
| N2AB | 30782 | 92569;92570;92571 | chr2:178542489;178542488;178542487 | chr2:179407216;179407215;179407214 |
| N2A | 29855 | 89788;89789;89790 | chr2:178542489;178542488;178542487 | chr2:179407216;179407215;179407214 |
| N2B | 23358 | 70297;70298;70299 | chr2:178542489;178542488;178542487 | chr2:179407216;179407215;179407214 |
| Novex-1 | 23483 | 70672;70673;70674 | chr2:178542489;178542488;178542487 | chr2:179407216;179407215;179407214 |
| Novex-2 | 23550 | 70873;70874;70875 | chr2:178542489;178542488;178542487 | chr2:179407216;179407215;179407214 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs1225502808  |
-1.575 | 0.016 | N | 0.291 | 0.156 | 0.136095386433 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| P/A | rs1225502808 |
-1.575 | 0.016 | N | 0.291 | 0.156 | 0.136095386433 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/A | rs1225502808 |
-1.575 | 0.016 | N | 0.291 | 0.156 | 0.136095386433 | gnomAD-4.0.0 | 6.57125E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46998E-05 | 0 | 0 |
| P/S | None | None | 0.716 | N | 0.611 | 0.318 | 0.239305524855 | gnomAD-4.0.0 | 1.59347E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77747E-05 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | None | None | 0.898 | N | 0.69 | 0.391 | 0.376039117802 | gnomAD-4.0.0 | 1.59347E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88345E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0681 | likely_benign | 0.0634 | benign | -1.592 | Destabilizing | 0.016 | N | 0.291 | neutral | N | 0.490759057 | None | None | N |
| P/C | 0.4406 | ambiguous | 0.3917 | ambiguous | -1.08 | Destabilizing | 0.994 | D | 0.754 | deleterious | None | None | None | None | N |
| P/D | 0.4945 | ambiguous | 0.4474 | ambiguous | -1.624 | Destabilizing | 0.959 | D | 0.731 | prob.delet. | None | None | None | None | N |
| P/E | 0.2429 | likely_benign | 0.2158 | benign | -1.544 | Destabilizing | 0.959 | D | 0.688 | prob.neutral | None | None | None | None | N |
| P/F | 0.4862 | ambiguous | 0.3749 | ambiguous | -1.091 | Destabilizing | 0.994 | D | 0.765 | deleterious | None | None | None | None | N |
| P/G | 0.3218 | likely_benign | 0.288 | benign | -1.983 | Destabilizing | 0.769 | D | 0.625 | neutral | None | None | None | None | N |
| P/H | 0.25 | likely_benign | 0.1912 | benign | -1.502 | Destabilizing | 0.998 | D | 0.737 | prob.delet. | None | None | None | None | N |
| P/I | 0.208 | likely_benign | 0.1693 | benign | -0.583 | Destabilizing | 0.959 | D | 0.771 | deleterious | None | None | None | None | N |
| P/K | 0.2432 | likely_benign | 0.2101 | benign | -1.402 | Destabilizing | 0.959 | D | 0.698 | prob.neutral | None | None | None | None | N |
| P/L | 0.1005 | likely_benign | 0.0808 | benign | -0.583 | Destabilizing | 0.898 | D | 0.709 | prob.delet. | N | 0.492798538 | None | None | N |
| P/M | 0.187 | likely_benign | 0.1615 | benign | -0.489 | Destabilizing | 0.994 | D | 0.734 | prob.delet. | None | None | None | None | N |
| P/N | 0.313 | likely_benign | 0.2749 | benign | -1.36 | Destabilizing | 0.979 | D | 0.763 | deleterious | None | None | None | None | N |
| P/Q | 0.142 | likely_benign | 0.1154 | benign | -1.409 | Destabilizing | 0.973 | D | 0.757 | deleterious | N | 0.506383342 | None | None | N |
| P/R | 0.2279 | likely_benign | 0.1782 | benign | -0.972 | Destabilizing | 0.946 | D | 0.751 | deleterious | N | 0.494520058 | None | None | N |
| P/S | 0.1305 | likely_benign | 0.1143 | benign | -1.899 | Destabilizing | 0.716 | D | 0.611 | neutral | N | 0.500849934 | None | None | N |
| P/T | 0.1055 | likely_benign | 0.0919 | benign | -1.69 | Destabilizing | 0.898 | D | 0.69 | prob.neutral | N | 0.492545048 | None | None | N |
| P/V | 0.1461 | likely_benign | 0.1247 | benign | -0.886 | Destabilizing | 0.921 | D | 0.693 | prob.neutral | None | None | None | None | N |
| P/W | 0.737 | likely_pathogenic | 0.6169 | pathogenic | -1.379 | Destabilizing | 0.998 | D | 0.741 | deleterious | None | None | None | None | N |
| P/Y | 0.469 | ambiguous | 0.3779 | ambiguous | -1.046 | Destabilizing | 0.998 | D | 0.765 | 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.