Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30044 | 90355;90356;90357 | chr2:178552770;178552769;178552768 | chr2:179417497;179417496;179417495 |
| N2AB | 28403 | 85432;85433;85434 | chr2:178552770;178552769;178552768 | chr2:179417497;179417496;179417495 |
| N2A | 27476 | 82651;82652;82653 | chr2:178552770;178552769;178552768 | chr2:179417497;179417496;179417495 |
| N2B | 20979 | 63160;63161;63162 | chr2:178552770;178552769;178552768 | chr2:179417497;179417496;179417495 |
| Novex-1 | 21104 | 63535;63536;63537 | chr2:178552770;178552769;178552768 | chr2:179417497;179417496;179417495 |
| Novex-2 | 21171 | 63736;63737;63738 | chr2:178552770;178552769;178552768 | chr2:179417497;179417496;179417495 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs566245349  |
-0.171 | 0.992 | N | 0.475 | 0.309 | 0.296329037015 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| K/E | rs566245349 |
-0.171 | 0.992 | N | 0.475 | 0.309 | 0.296329037015 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| K/E | rs566245349 |
-0.171 | 0.992 | N | 0.475 | 0.309 | 0.296329037015 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| K/E | rs566245349 |
-0.171 | 0.992 | N | 0.475 | 0.309 | 0.296329037015 | gnomAD-4.0.0 | 6.56625E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.3386 | likely_benign | 0.3175 | benign | -0.182 | Destabilizing | 0.997 | D | 0.588 | neutral | None | None | None | None | N |
| K/C | 0.7835 | likely_pathogenic | 0.7616 | pathogenic | -0.28 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| K/D | 0.6072 | likely_pathogenic | 0.6097 | pathogenic | -0.033 | Destabilizing | 0.996 | D | 0.631 | neutral | None | None | None | None | N |
| K/E | 0.2838 | likely_benign | 0.2619 | benign | -0.014 | Destabilizing | 0.992 | D | 0.475 | neutral | N | 0.483403436 | None | None | N |
| K/F | 0.9011 | likely_pathogenic | 0.887 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| K/G | 0.4333 | ambiguous | 0.4046 | ambiguous | -0.428 | Destabilizing | 0.994 | D | 0.604 | neutral | None | None | None | None | N |
| K/H | 0.4517 | ambiguous | 0.4343 | ambiguous | -0.816 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| K/I | 0.6134 | likely_pathogenic | 0.5671 | pathogenic | 0.4 | Stabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| K/L | 0.5197 | ambiguous | 0.4958 | ambiguous | 0.4 | Stabilizing | 0.999 | D | 0.643 | neutral | None | None | None | None | N |
| K/M | 0.3755 | ambiguous | 0.3495 | ambiguous | 0.402 | Stabilizing | 1.0 | D | 0.677 | prob.neutral | N | 0.505210665 | None | None | N |
| K/N | 0.4388 | ambiguous | 0.4456 | ambiguous | 0.073 | Stabilizing | 0.79 | D | 0.325 | neutral | N | 0.506781728 | None | None | N |
| K/P | 0.6104 | likely_pathogenic | 0.5941 | pathogenic | 0.236 | Stabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| K/Q | 0.1786 | likely_benign | 0.1655 | benign | -0.177 | Destabilizing | 0.999 | D | 0.679 | prob.neutral | D | 0.523636692 | None | None | N |
| K/R | 0.0832 | likely_benign | 0.0779 | benign | -0.147 | Destabilizing | 0.996 | D | 0.498 | neutral | N | 0.472189152 | None | None | N |
| K/S | 0.4098 | ambiguous | 0.4043 | ambiguous | -0.504 | Destabilizing | 0.994 | D | 0.499 | neutral | None | None | None | None | N |
| K/T | 0.2873 | likely_benign | 0.2724 | benign | -0.322 | Destabilizing | 0.998 | D | 0.649 | neutral | N | 0.517670725 | None | None | N |
| K/V | 0.4993 | ambiguous | 0.4587 | ambiguous | 0.236 | Stabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| K/W | 0.8965 | likely_pathogenic | 0.8821 | pathogenic | -0.246 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| K/Y | 0.7795 | likely_pathogenic | 0.7592 | pathogenic | 0.101 | Stabilizing | 1.0 | D | 0.751 | 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.