Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26499 | 79720;79721;79722 | chr2:178566637;178566636;178566635 | chr2:179431364;179431363;179431362 |
| N2AB | 24858 | 74797;74798;74799 | chr2:178566637;178566636;178566635 | chr2:179431364;179431363;179431362 |
| N2A | 23931 | 72016;72017;72018 | chr2:178566637;178566636;178566635 | chr2:179431364;179431363;179431362 |
| N2B | 17434 | 52525;52526;52527 | chr2:178566637;178566636;178566635 | chr2:179431364;179431363;179431362 |
| Novex-1 | 17559 | 52900;52901;52902 | chr2:178566637;178566636;178566635 | chr2:179431364;179431363;179431362 |
| Novex-2 | 17626 | 53101;53102;53103 | chr2:178566637;178566636;178566635 | chr2:179431364;179431363;179431362 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs780940162  |
-0.788 | 0.996 | N | 0.453 | 0.256 | 0.207176502487 | gnomAD-2.1.1 | 5.25E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 3.92234E-04 | None | 0 | 0 | 0 |
| T/A | rs780940162 |
-0.788 | 0.996 | N | 0.453 | 0.256 | 0.207176502487 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93648E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | rs780940162 |
-0.788 | 0.996 | N | 0.453 | 0.256 | 0.207176502487 | gnomAD-4.0.0 | 1.42619E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.22926E-05 | None | 0 | 0 | 0 | 2.30582E-04 | 1.60159E-05 |
| T/N | rs1705978899 |
None | 1.0 | N | 0.667 | 0.421 | 0.405979908929 | gnomAD-4.0.0 | 4.78133E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.5457E-05 | None | 0 | 0 | 2.85889E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1181 | likely_benign | 0.1048 | benign | -0.493 | Destabilizing | 0.996 | D | 0.453 | neutral | N | 0.513054339 | None | None | N |
| T/C | 0.3387 | likely_benign | 0.311 | benign | -1.004 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| T/D | 0.8167 | likely_pathogenic | 0.7516 | pathogenic | -2.068 | Highly Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| T/E | 0.663 | likely_pathogenic | 0.6103 | pathogenic | -2.011 | Highly Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| T/F | 0.3498 | ambiguous | 0.2877 | benign | -0.943 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| T/G | 0.4162 | ambiguous | 0.355 | ambiguous | -0.723 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| T/H | 0.3622 | ambiguous | 0.3414 | ambiguous | -1.2 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| T/I | 0.2366 | likely_benign | 0.1932 | benign | 0.034 | Stabilizing | 0.992 | D | 0.58 | neutral | N | 0.445442481 | None | None | N |
| T/K | 0.3244 | likely_benign | 0.3035 | benign | -0.609 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| T/L | 0.1847 | likely_benign | 0.1601 | benign | 0.034 | Stabilizing | 0.994 | D | 0.49 | neutral | None | None | None | None | N |
| T/M | 0.1117 | likely_benign | 0.0986 | benign | 0.206 | Stabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| T/N | 0.2824 | likely_benign | 0.2344 | benign | -1.171 | Destabilizing | 1.0 | D | 0.667 | neutral | N | 0.498841109 | None | None | N |
| T/P | 0.7813 | likely_pathogenic | 0.6929 | pathogenic | -0.112 | Destabilizing | 1.0 | D | 0.751 | deleterious | N | 0.472369516 | None | None | N |
| T/Q | 0.36 | ambiguous | 0.3401 | ambiguous | -1.381 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| T/R | 0.2844 | likely_benign | 0.2534 | benign | -0.428 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| T/S | 0.1379 | likely_benign | 0.1153 | benign | -1.097 | Destabilizing | 0.998 | D | 0.419 | neutral | N | 0.479192482 | None | None | N |
| T/V | 0.1562 | likely_benign | 0.1351 | benign | -0.112 | Destabilizing | 0.813 | D | 0.256 | neutral | None | None | None | None | N |
| T/W | 0.7519 | likely_pathogenic | 0.697 | pathogenic | -1.119 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| T/Y | 0.3912 | ambiguous | 0.3504 | ambiguous | -0.647 | Destabilizing | 1.0 | D | 0.776 | 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.