Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14320 | 43183;43184;43185 | chr2:178633315;178633314;178633313 | chr2:179498042;179498041;179498040 |
| N2AB | 12679 | 38260;38261;38262 | chr2:178633315;178633314;178633313 | chr2:179498042;179498041;179498040 |
| N2A | 11752 | 35479;35480;35481 | chr2:178633315;178633314;178633313 | chr2:179498042;179498041;179498040 |
| N2B | 5255 | 15988;15989;15990 | chr2:178633315;178633314;178633313 | chr2:179498042;179498041;179498040 |
| Novex-1 | 5380 | 16363;16364;16365 | chr2:178633315;178633314;178633313 | chr2:179498042;179498041;179498040 |
| Novex-2 | 5447 | 16564;16565;16566 | chr2:178633315;178633314;178633313 | chr2:179498042;179498041;179498040 |
| 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 | rs6723526  |
None | 0.997 | N | 0.657 | 0.255 | None | gnomAD-2.1.1 | 8.16223E-02 | None | None | None | None | N | None | 1.69618E-02 | 4.19982E-02 | None | 6.9049E-02 | 6.07246E-03 | None | 1.02397E-01 | None | 1.00744E-01 | 1.07933E-01 | 9.38557E-02 |
| K/E | rs6723526 |
None | 0.997 | N | 0.657 | 0.255 | None | gnomAD-3.1.2 | 7.22893E-02 | None | None | None | None | N | None | 1.79123E-02 | 5.89855E-02 | 5.8114E-02 | 6.62824E-02 | 6.20636E-03 | None | 1.02545E-01 | 7.27848E-02 | 1.0715E-01 | 9.89627E-02 | 7.74379E-02 |
| K/E | rs6723526 |
None | 0.997 | N | 0.657 | 0.255 | None | 1000 genomes | 5.09185E-02 | None | None | None | None | N | None | 6.1E-03 | 6.2E-02 | None | None | 5E-03 | 1.004E-01 | None | None | None | 1.002E-01 | None |
| K/E | rs6723526 |
None | 0.997 | N | 0.657 | 0.255 | None | gnomAD-4.0.0 | 9.75801E-02 | None | None | None | None | N | None | 1.63081E-02 | 4.77868E-02 | None | 6.80235E-02 | 1.01362E-02 | None | 1.00128E-01 | 9.39153E-02 | 1.09024E-01 | 1.05563E-01 | 9.01752E-02 |
| K/T | None | None | 0.999 | N | 0.729 | 0.527 | 0.461408135625 | gnomAD-4.0.0 | 1.5934E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.77099E-05 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.5476 | ambiguous | 0.5818 | pathogenic | -0.033 | Destabilizing | 0.998 | D | 0.743 | deleterious | None | None | None | None | N |
| K/C | 0.8617 | likely_pathogenic | 0.876 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| K/D | 0.7892 | likely_pathogenic | 0.7975 | pathogenic | 0.058 | Stabilizing | 0.999 | D | 0.746 | deleterious | None | None | None | None | N |
| K/E | 0.3171 | likely_benign | 0.3169 | benign | 0.08 | Stabilizing | 0.997 | D | 0.657 | prob.neutral | N | 0.500231471 | None | None | N |
| K/F | 0.9048 | likely_pathogenic | 0.9009 | pathogenic | -0.178 | Destabilizing | 1.0 | D | 0.702 | prob.delet. | None | None | None | None | N |
| K/G | 0.7526 | likely_pathogenic | 0.7597 | pathogenic | -0.244 | Destabilizing | 0.999 | D | 0.625 | neutral | None | None | None | None | N |
| K/H | 0.3989 | ambiguous | 0.4172 | ambiguous | -0.422 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| K/I | 0.5293 | ambiguous | 0.5682 | pathogenic | 0.45 | Stabilizing | 0.999 | D | 0.715 | prob.delet. | D | 0.642226193 | None | None | N |
| K/L | 0.5748 | likely_pathogenic | 0.5994 | pathogenic | 0.45 | Stabilizing | 0.999 | D | 0.625 | neutral | None | None | None | None | N |
| K/M | 0.4004 | ambiguous | 0.4234 | ambiguous | 0.126 | Stabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| K/N | 0.594 | likely_pathogenic | 0.6195 | pathogenic | 0.089 | Stabilizing | 0.999 | D | 0.766 | deleterious | D | 0.640446589 | None | None | N |
| K/P | 0.9074 | likely_pathogenic | 0.9212 | pathogenic | 0.317 | Stabilizing | 0.999 | D | 0.696 | prob.delet. | None | None | None | None | N |
| K/Q | 0.206 | likely_benign | 0.227 | benign | -0.04 | Destabilizing | 0.999 | D | 0.781 | deleterious | N | 0.503909585 | None | None | N |
| K/R | 0.1022 | likely_benign | 0.1103 | benign | -0.066 | Destabilizing | 0.997 | D | 0.595 | neutral | N | 0.50772548 | None | None | N |
| K/S | 0.6058 | likely_pathogenic | 0.6191 | pathogenic | -0.394 | Destabilizing | 0.998 | D | 0.715 | prob.delet. | None | None | None | None | N |
| K/T | 0.257 | likely_benign | 0.2648 | benign | -0.217 | Destabilizing | 0.999 | D | 0.729 | deleterious | N | 0.500783735 | None | None | N |
| K/V | 0.4929 | ambiguous | 0.5263 | ambiguous | 0.317 | Stabilizing | 0.999 | D | 0.632 | neutral | None | None | None | None | N |
| K/W | 0.8985 | likely_pathogenic | 0.9006 | pathogenic | -0.201 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| K/Y | 0.8183 | likely_pathogenic | 0.8148 | pathogenic | 0.144 | Stabilizing | 1.0 | D | 0.705 | 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.