Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23203 | 69832;69833;69834 | chr2:178576637;178576636;178576635 | chr2:179441364;179441363;179441362 |
| N2AB | 21562 | 64909;64910;64911 | chr2:178576637;178576636;178576635 | chr2:179441364;179441363;179441362 |
| N2A | 20635 | 62128;62129;62130 | chr2:178576637;178576636;178576635 | chr2:179441364;179441363;179441362 |
| N2B | 14138 | 42637;42638;42639 | chr2:178576637;178576636;178576635 | chr2:179441364;179441363;179441362 |
| Novex-1 | 14263 | 43012;43013;43014 | chr2:178576637;178576636;178576635 | chr2:179441364;179441363;179441362 |
| Novex-2 | 14330 | 43213;43214;43215 | chr2:178576637;178576636;178576635 | chr2:179441364;179441363;179441362 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs575899662  |
-0.193 | 0.995 | N | 0.751 | 0.419 | 0.484691182572 | gnomAD-2.1.1 | 1.08585E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 8.82353E-04 | None | 0 | 0 | 0 |
| G/E | rs575899662 |
-0.193 | 0.995 | N | 0.751 | 0.419 | 0.484691182572 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 8.30565E-04 | 0 |
| G/E | rs575899662 |
-0.193 | 0.995 | N | 0.751 | 0.419 | 0.484691182572 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| G/E | rs575899662 |
-0.193 | 0.995 | N | 0.751 | 0.419 | 0.484691182572 | gnomAD-4.0.0 | 5.6397E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 9.3345E-04 | 9.60584E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2786 | likely_benign | 0.2594 | benign | -0.37 | Destabilizing | 0.991 | D | 0.607 | neutral | N | 0.515138619 | None | None | N |
| G/C | 0.4128 | ambiguous | 0.3928 | ambiguous | -0.87 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| G/D | 0.5115 | ambiguous | 0.514 | ambiguous | -0.678 | Destabilizing | 0.521 | D | 0.507 | neutral | None | None | None | None | N |
| G/E | 0.6309 | likely_pathogenic | 0.6372 | pathogenic | -0.82 | Destabilizing | 0.995 | D | 0.751 | deleterious | N | 0.470180697 | None | None | N |
| G/F | 0.8252 | likely_pathogenic | 0.8095 | pathogenic | -1.002 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| G/H | 0.6181 | likely_pathogenic | 0.585 | pathogenic | -0.676 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| G/I | 0.718 | likely_pathogenic | 0.7142 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| G/K | 0.8112 | likely_pathogenic | 0.805 | pathogenic | -0.956 | Destabilizing | 0.998 | D | 0.744 | deleterious | None | None | None | None | N |
| G/L | 0.7222 | likely_pathogenic | 0.699 | pathogenic | -0.385 | Destabilizing | 0.999 | D | 0.765 | deleterious | None | None | None | None | N |
| G/M | 0.7232 | likely_pathogenic | 0.7065 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| G/N | 0.3552 | ambiguous | 0.3065 | benign | -0.569 | Destabilizing | 0.996 | D | 0.743 | deleterious | None | None | None | None | N |
| G/P | 0.9513 | likely_pathogenic | 0.9455 | pathogenic | -0.344 | Destabilizing | 0.999 | D | 0.758 | deleterious | None | None | None | None | N |
| G/Q | 0.6212 | likely_pathogenic | 0.608 | pathogenic | -0.836 | Destabilizing | 0.999 | D | 0.768 | deleterious | None | None | None | None | N |
| G/R | 0.6736 | likely_pathogenic | 0.6712 | pathogenic | -0.507 | Destabilizing | 0.999 | D | 0.767 | deleterious | N | 0.478587714 | None | None | N |
| G/S | 0.1503 | likely_benign | 0.1341 | benign | -0.733 | Destabilizing | 0.998 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/T | 0.3637 | ambiguous | 0.349 | ambiguous | -0.8 | Destabilizing | 0.998 | D | 0.737 | prob.delet. | None | None | None | None | N |
| G/V | 0.5643 | likely_pathogenic | 0.5619 | ambiguous | -0.344 | Destabilizing | 0.999 | D | 0.777 | deleterious | N | 0.520925517 | None | None | N |
| G/W | 0.7271 | likely_pathogenic | 0.7221 | pathogenic | -1.195 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| G/Y | 0.708 | likely_pathogenic | 0.6791 | pathogenic | -0.83 | Destabilizing | 1.0 | D | 0.777 | 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.