Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14662 | 44209;44210;44211 | chr2:178631064;178631063;178631062 | chr2:179495791;179495790;179495789 |
| N2AB | 13021 | 39286;39287;39288 | chr2:178631064;178631063;178631062 | chr2:179495791;179495790;179495789 |
| N2A | 12094 | 36505;36506;36507 | chr2:178631064;178631063;178631062 | chr2:179495791;179495790;179495789 |
| N2B | 5597 | 17014;17015;17016 | chr2:178631064;178631063;178631062 | chr2:179495791;179495790;179495789 |
| Novex-1 | 5722 | 17389;17390;17391 | chr2:178631064;178631063;178631062 | chr2:179495791;179495790;179495789 |
| Novex-2 | 5789 | 17590;17591;17592 | chr2:178631064;178631063;178631062 | chr2:179495791;179495790;179495789 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | rs796538475  |
-0.521 | 1.0 | N | 0.669 | 0.401 | 0.28297238246 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 9.19118E-04 |
| D/A | rs796538475 |
-0.521 | 1.0 | N | 0.669 | 0.401 | 0.28297238246 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| D/A | rs796538475 |
-0.521 | 1.0 | N | 0.669 | 0.401 | 0.28297238246 | gnomAD-4.0.0 | 8.67852E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.10208E-05 | 0 | 1.602E-05 |
| D/E | rs201390600 |
-0.671 | 1.0 | N | 0.391 | 0.227 | 0.198526703765 | gnomAD-2.1.1 | 8.23E-05 | None | None | None | None | N | None | 0 | 3.96758E-04 | None | 0 | 0 | None | 0 | None | 0 | 4.7E-05 | 4.22893E-04 |
| D/E | rs201390600 |
-0.671 | 1.0 | N | 0.391 | 0.227 | 0.198526703765 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 4.79386E-04 |
| D/E | rs201390600 |
-0.671 | 1.0 | N | 0.391 | 0.227 | 0.198526703765 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| D/E | rs201390600 |
-0.671 | 1.0 | N | 0.391 | 0.227 | 0.198526703765 | gnomAD-4.0.0 | 4.40109E-05 | None | None | None | None | N | None | 0 | 3.66862E-04 | None | 0 | 0 | None | 0 | 0 | 3.56058E-05 | 0 | 1.12104E-04 |
| D/H | rs876658059 |
None | 1.0 | D | 0.683 | 0.441 | 0.300449992093 | gnomAD-4.0.0 | 1.59252E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85974E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.3442 | ambiguous | 0.3615 | ambiguous | -0.616 | Destabilizing | 1.0 | D | 0.669 | neutral | N | 0.440787409 | None | None | N |
| D/C | 0.8725 | likely_pathogenic | 0.9041 | pathogenic | -0.22 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| D/E | 0.3713 | ambiguous | 0.357 | ambiguous | -0.778 | Destabilizing | 1.0 | D | 0.391 | neutral | N | 0.450526384 | None | None | N |
| D/F | 0.8791 | likely_pathogenic | 0.898 | pathogenic | -0.357 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| D/G | 0.3618 | ambiguous | 0.4116 | ambiguous | -0.965 | Destabilizing | 1.0 | D | 0.653 | neutral | N | 0.434565078 | None | None | N |
| D/H | 0.6202 | likely_pathogenic | 0.6806 | pathogenic | -0.719 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | D | 0.574859959 | None | None | N |
| D/I | 0.7932 | likely_pathogenic | 0.7989 | pathogenic | 0.305 | Stabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| D/K | 0.7146 | likely_pathogenic | 0.7357 | pathogenic | -0.381 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| D/L | 0.7936 | likely_pathogenic | 0.8105 | pathogenic | 0.305 | Stabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| D/M | 0.9062 | likely_pathogenic | 0.9039 | pathogenic | 0.801 | Stabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| D/N | 0.198 | likely_benign | 0.204 | benign | -0.795 | Destabilizing | 1.0 | D | 0.597 | neutral | N | 0.509979492 | None | None | N |
| D/P | 0.9725 | likely_pathogenic | 0.9846 | pathogenic | 0.023 | Stabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| D/Q | 0.6406 | likely_pathogenic | 0.644 | pathogenic | -0.668 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| D/R | 0.7268 | likely_pathogenic | 0.7682 | pathogenic | -0.288 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| D/S | 0.2311 | likely_benign | 0.2336 | benign | -1.065 | Destabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| D/T | 0.5796 | likely_pathogenic | 0.6022 | pathogenic | -0.775 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| D/V | 0.54 | ambiguous | 0.5494 | ambiguous | 0.023 | Stabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.427953484 | None | None | N |
| D/W | 0.9749 | likely_pathogenic | 0.9824 | pathogenic | -0.207 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| D/Y | 0.5167 | ambiguous | 0.5953 | pathogenic | -0.114 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | D | 0.589584302 | 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.