Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5279 | 16060;16061;16062 | chr2:178733458;178733457;178733456 | chr2:179598185;179598184;179598183 |
| N2AB | 4962 | 15109;15110;15111 | chr2:178733458;178733457;178733456 | chr2:179598185;179598184;179598183 |
| N2A | 4035 | 12328;12329;12330 | chr2:178733458;178733457;178733456 | chr2:179598185;179598184;179598183 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs559795262  |
-0.73 | 0.863 | N | 0.604 | 0.102 | 0.159798565429 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.02512E-04 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs559795262 |
-0.73 | 0.863 | N | 0.604 | 0.102 | 0.159798565429 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.85802E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | rs559795262 |
-0.73 | 0.863 | N | 0.604 | 0.102 | 0.159798565429 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| T/A | rs559795262 |
-0.73 | 0.863 | N | 0.604 | 0.102 | 0.159798565429 | gnomAD-4.0.0 | 3.04438E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.27221E-04 | None | 0 | 0 | 0 | 0 | 3.39997E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0857 | likely_benign | 0.0977 | benign | -0.864 | Destabilizing | 0.863 | D | 0.604 | neutral | N | 0.454551921 | None | None | N |
| T/C | 0.4053 | ambiguous | 0.5143 | ambiguous | -0.643 | Destabilizing | 0.999 | D | 0.694 | prob.neutral | None | None | None | None | N |
| T/D | 0.5542 | ambiguous | 0.5766 | pathogenic | -0.272 | Destabilizing | 0.998 | D | 0.697 | prob.neutral | None | None | None | None | N |
| T/E | 0.4622 | ambiguous | 0.473 | ambiguous | -0.189 | Destabilizing | 0.998 | D | 0.663 | neutral | None | None | None | None | N |
| T/F | 0.191 | likely_benign | 0.2334 | benign | -0.778 | Destabilizing | 0.986 | D | 0.723 | prob.delet. | None | None | None | None | N |
| T/G | 0.3243 | likely_benign | 0.4076 | ambiguous | -1.194 | Destabilizing | 0.998 | D | 0.682 | prob.neutral | None | None | None | None | N |
| T/H | 0.2959 | likely_benign | 0.3418 | ambiguous | -1.296 | Destabilizing | 0.999 | D | 0.724 | prob.delet. | None | None | None | None | N |
| T/I | 0.0915 | likely_benign | 0.1161 | benign | -0.053 | Destabilizing | 0.1 | N | 0.378 | neutral | N | 0.477469759 | None | None | N |
| T/K | 0.3638 | ambiguous | 0.3574 | ambiguous | -0.62 | Destabilizing | 0.991 | D | 0.675 | neutral | N | 0.456131302 | None | None | N |
| T/L | 0.0783 | likely_benign | 0.0986 | benign | -0.053 | Destabilizing | 0.807 | D | 0.571 | neutral | None | None | None | None | N |
| T/M | 0.0766 | likely_benign | 0.0912 | benign | -0.032 | Destabilizing | 0.986 | D | 0.707 | prob.neutral | None | None | None | None | N |
| T/N | 0.1341 | likely_benign | 0.1599 | benign | -0.874 | Destabilizing | 0.998 | D | 0.627 | neutral | None | None | None | None | N |
| T/P | 0.3519 | ambiguous | 0.4226 | ambiguous | -0.29 | Destabilizing | 0.997 | D | 0.688 | prob.neutral | D | 0.684042563 | None | None | N |
| T/Q | 0.3041 | likely_benign | 0.3356 | benign | -0.831 | Destabilizing | 0.998 | D | 0.705 | prob.neutral | None | None | None | None | N |
| T/R | 0.2966 | likely_benign | 0.286 | benign | -0.532 | Destabilizing | 0.997 | D | 0.693 | prob.neutral | N | 0.467444543 | None | None | N |
| T/S | 0.1122 | likely_benign | 0.1342 | benign | -1.184 | Destabilizing | 0.969 | D | 0.562 | neutral | N | 0.459631701 | None | None | N |
| T/V | 0.0827 | likely_benign | 0.1025 | benign | -0.29 | Destabilizing | 0.214 | N | 0.4 | neutral | None | None | None | None | N |
| T/W | 0.6387 | likely_pathogenic | 0.6965 | pathogenic | -0.783 | Destabilizing | 0.999 | D | 0.719 | prob.delet. | None | None | None | None | N |
| T/Y | 0.2897 | likely_benign | 0.3166 | benign | -0.49 | Destabilizing | 0.998 | D | 0.733 | prob.delet. | 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.