Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6682 | 20269;20270;20271 | chr2:178727321;178727320;178727319 | chr2:179592048;179592047;179592046 |
| N2AB | 6365 | 19318;19319;19320 | chr2:178727321;178727320;178727319 | chr2:179592048;179592047;179592046 |
| N2A | 5438 | 16537;16538;16539 | chr2:178727321;178727320;178727319 | chr2:179592048;179592047;179592046 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/C | rs1455272126  |
-0.871 | 1.0 | D | 0.813 | 0.574 | 0.803802688793 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.33E-05 | None | 0 | 0 | 0 |
| G/C | rs1455272126 |
-0.871 | 1.0 | D | 0.813 | 0.574 | 0.803802688793 | gnomAD-4.0.0 | 1.59923E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.44421E-05 | 0 |
| G/D | None | None | 1.0 | D | 0.863 | 0.562 | 0.588653130956 | gnomAD-4.0.0 | 6.85637E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16678E-05 | 0 |
| G/V | rs534432929 |
-0.333 | 1.0 | D | 0.844 | 0.597 | 0.803020852194 | gnomAD-2.1.1 | 2.84E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.32976E-04 | None | 0 | 0 | 0 |
| G/V | rs534432929 |
-0.333 | 1.0 | D | 0.844 | 0.597 | 0.803020852194 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.14422E-04 | 0 |
| G/V | rs534432929 |
-0.333 | 1.0 | D | 0.844 | 0.597 | 0.803020852194 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| G/V | rs534432929 |
-0.333 | 1.0 | D | 0.844 | 0.597 | 0.803020852194 | gnomAD-4.0.0 | 1.73838E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.9825E-04 | 1.60447E-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 | 0.3034 | likely_benign | 0.245 | benign | -0.29 | Destabilizing | 0.998 | D | 0.685 | prob.neutral | D | 0.644256456 | None | None | N |
| G/C | 0.5549 | ambiguous | 0.508 | ambiguous | -0.866 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.644861869 | None | None | N |
| G/D | 0.3283 | likely_benign | 0.2569 | benign | -0.472 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.572760462 | None | None | N |
| G/E | 0.3778 | ambiguous | 0.2966 | benign | -0.638 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| G/F | 0.7585 | likely_pathogenic | 0.6734 | pathogenic | -1.047 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| G/H | 0.5341 | ambiguous | 0.4583 | ambiguous | -0.532 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| G/I | 0.7676 | likely_pathogenic | 0.6578 | pathogenic | -0.436 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/K | 0.5061 | ambiguous | 0.4333 | ambiguous | -0.695 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| G/L | 0.6954 | likely_pathogenic | 0.5933 | pathogenic | -0.436 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/M | 0.7171 | likely_pathogenic | 0.6397 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/N | 0.3291 | likely_benign | 0.2794 | benign | -0.364 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| G/P | 0.9689 | likely_pathogenic | 0.955 | pathogenic | -0.355 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/Q | 0.4303 | ambiguous | 0.3512 | ambiguous | -0.667 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/R | 0.3655 | ambiguous | 0.3043 | benign | -0.27 | Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.618920149 | None | None | N |
| G/S | 0.1674 | likely_benign | 0.1442 | benign | -0.532 | Destabilizing | 0.991 | D | 0.574 | neutral | D | 0.586245654 | None | None | N |
| G/T | 0.3599 | ambiguous | 0.3019 | benign | -0.627 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/V | 0.6316 | likely_pathogenic | 0.5124 | ambiguous | -0.355 | Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.644660065 | None | None | N |
| G/W | 0.609 | likely_pathogenic | 0.5434 | ambiguous | -1.181 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| G/Y | 0.6414 | likely_pathogenic | 0.564 | ambiguous | -0.823 | Destabilizing | 1.0 | D | 0.855 | 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.