Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32633 | 98122;98123;98124 | chr2:178540269;178540268;178540267 | chr2:179404996;179404995;179404994 |
| N2AB | 30992 | 93199;93200;93201 | chr2:178540269;178540268;178540267 | chr2:179404996;179404995;179404994 |
| N2A | 30065 | 90418;90419;90420 | chr2:178540269;178540268;178540267 | chr2:179404996;179404995;179404994 |
| N2B | 23568 | 70927;70928;70929 | chr2:178540269;178540268;178540267 | chr2:179404996;179404995;179404994 |
| Novex-1 | 23693 | 71302;71303;71304 | chr2:178540269;178540268;178540267 | chr2:179404996;179404995;179404994 |
| Novex-2 | 23760 | 71503;71504;71505 | chr2:178540269;178540268;178540267 | chr2:179404996;179404995;179404994 |
| 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/I | rs879182102  |
0.079 | 1.0 | N | 0.831 | 0.438 | None | gnomAD-2.1.1 | 7.13E-06 | None | None | None | None | I | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs879182102 |
0.079 | 1.0 | N | 0.831 | 0.438 | None | 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 |
| T/I | rs879182102 |
0.079 | 1.0 | N | 0.831 | 0.438 | None | gnomAD-4.0.0 | 6.57255E-06 | None | None | None | None | I | None | 2.41336E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/R | rs879182102 |
None | 1.0 | N | 0.825 | 0.386 | 0.488266720666 | gnomAD-4.0.0 | 1.36839E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79893E-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 | 0.1391 | likely_benign | 0.1468 | benign | -0.536 | Destabilizing | 0.999 | D | 0.567 | neutral | N | 0.491945483 | None | None | I |
| T/C | 0.5564 | ambiguous | 0.5546 | ambiguous | -0.222 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | I |
| T/D | 0.5515 | ambiguous | 0.5792 | pathogenic | -0.126 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| T/E | 0.4485 | ambiguous | 0.4794 | ambiguous | -0.184 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| T/F | 0.381 | ambiguous | 0.4195 | ambiguous | -0.852 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| T/G | 0.4487 | ambiguous | 0.4676 | ambiguous | -0.721 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | I |
| T/H | 0.4396 | ambiguous | 0.4765 | ambiguous | -1.075 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| T/I | 0.21 | likely_benign | 0.2233 | benign | -0.155 | Destabilizing | 1.0 | D | 0.831 | deleterious | N | 0.49731967 | None | None | I |
| T/K | 0.3378 | likely_benign | 0.3604 | ambiguous | -0.566 | Destabilizing | 1.0 | D | 0.836 | deleterious | N | 0.509286102 | None | None | I |
| T/L | 0.1185 | likely_benign | 0.1314 | benign | -0.155 | Destabilizing | 0.999 | D | 0.709 | prob.delet. | None | None | None | None | I |
| T/M | 0.0977 | likely_benign | 0.1091 | benign | 0.222 | Stabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| T/N | 0.209 | likely_benign | 0.2245 | benign | -0.334 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| T/P | 0.5376 | ambiguous | 0.5343 | ambiguous | -0.251 | Destabilizing | 1.0 | D | 0.819 | deleterious | N | 0.511824164 | None | None | I |
| T/Q | 0.3475 | ambiguous | 0.3716 | ambiguous | -0.603 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| T/R | 0.3129 | likely_benign | 0.334 | benign | -0.258 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.475905143 | None | None | I |
| T/S | 0.1805 | likely_benign | 0.1915 | benign | -0.56 | Destabilizing | 0.999 | D | 0.548 | neutral | N | 0.488468113 | None | None | I |
| T/V | 0.1712 | likely_benign | 0.1794 | benign | -0.251 | Destabilizing | 0.999 | D | 0.617 | neutral | None | None | None | None | I |
| T/W | 0.7296 | likely_pathogenic | 0.7457 | pathogenic | -0.809 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| T/Y | 0.4678 | ambiguous | 0.4913 | ambiguous | -0.564 | Destabilizing | 1.0 | D | 0.837 | 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.