Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28877 | 86854;86855;86856 | chr2:178559503;178559502;178559501 | chr2:179424230;179424229;179424228 |
| N2AB | 27236 | 81931;81932;81933 | chr2:178559503;178559502;178559501 | chr2:179424230;179424229;179424228 |
| N2A | 26309 | 79150;79151;79152 | chr2:178559503;178559502;178559501 | chr2:179424230;179424229;179424228 |
| N2B | 19812 | 59659;59660;59661 | chr2:178559503;178559502;178559501 | chr2:179424230;179424229;179424228 |
| Novex-1 | 19937 | 60034;60035;60036 | chr2:178559503;178559502;178559501 | chr2:179424230;179424229;179424228 |
| Novex-2 | 20004 | 60235;60236;60237 | chr2:178559503;178559502;178559501 | chr2:179424230;179424229;179424228 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/G | None | None | 1.0 | N | 0.859 | 0.588 | 0.903930641201 | gnomAD-4.0.0 | 1.59145E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85881E-06 | 0 | 0 |
| V/L | rs750357355  |
-0.737 | 0.997 | N | 0.704 | 0.349 | 0.399017061211 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/L | rs750357355 |
-0.737 | 0.997 | N | 0.704 | 0.349 | 0.399017061211 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs750357355 |
-0.737 | 0.997 | N | 0.704 | 0.349 | 0.399017061211 | gnomAD-4.0.0 | 1.85914E-06 | None | None | None | None | I | None | 4.00427E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs750357355 |
-0.59 | 1.0 | N | 0.813 | 0.408 | 0.497086342495 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| V/M | rs750357355 |
-0.59 | 1.0 | N | 0.813 | 0.408 | 0.497086342495 | gnomAD-4.0.0 | 3.42119E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.79737E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.8948 | likely_pathogenic | 0.8861 | pathogenic | -1.965 | Destabilizing | 0.999 | D | 0.716 | prob.delet. | N | 0.498351037 | None | None | I |
| V/C | 0.9565 | likely_pathogenic | 0.9598 | pathogenic | -1.136 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| V/D | 0.9974 | likely_pathogenic | 0.9969 | pathogenic | -2.482 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | I |
| V/E | 0.9884 | likely_pathogenic | 0.9859 | pathogenic | -2.408 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | N | 0.499618485 | None | None | I |
| V/F | 0.8992 | likely_pathogenic | 0.8908 | pathogenic | -1.422 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| V/G | 0.9487 | likely_pathogenic | 0.9469 | pathogenic | -2.359 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | N | 0.517304666 | None | None | I |
| V/H | 0.9966 | likely_pathogenic | 0.996 | pathogenic | -2.148 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| V/I | 0.09 | likely_benign | 0.0878 | benign | -0.923 | Destabilizing | 0.998 | D | 0.678 | prob.neutral | None | None | None | None | I |
| V/K | 0.9926 | likely_pathogenic | 0.9913 | pathogenic | -1.74 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | I |
| V/L | 0.5824 | likely_pathogenic | 0.5486 | ambiguous | -0.923 | Destabilizing | 0.997 | D | 0.704 | prob.neutral | N | 0.485830453 | None | None | I |
| V/M | 0.6804 | likely_pathogenic | 0.6464 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.516544198 | None | None | I |
| V/N | 0.9841 | likely_pathogenic | 0.9824 | pathogenic | -1.645 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | I |
| V/P | 0.9391 | likely_pathogenic | 0.9399 | pathogenic | -1.242 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | I |
| V/Q | 0.9853 | likely_pathogenic | 0.9833 | pathogenic | -1.721 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | I |
| V/R | 0.9866 | likely_pathogenic | 0.9842 | pathogenic | -1.274 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | I |
| V/S | 0.9594 | likely_pathogenic | 0.9551 | pathogenic | -2.105 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | I |
| V/T | 0.8963 | likely_pathogenic | 0.8931 | pathogenic | -1.931 | Destabilizing | 0.999 | D | 0.807 | deleterious | None | None | None | None | I |
| V/W | 0.9976 | likely_pathogenic | 0.9972 | pathogenic | -1.856 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| V/Y | 0.9904 | likely_pathogenic | 0.9895 | pathogenic | -1.555 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
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.