Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19243 | 57952;57953;57954 | chr2:178595627;178595626;178595625 | chr2:179460354;179460353;179460352 |
| N2AB | 17602 | 53029;53030;53031 | chr2:178595627;178595626;178595625 | chr2:179460354;179460353;179460352 |
| N2A | 16675 | 50248;50249;50250 | chr2:178595627;178595626;178595625 | chr2:179460354;179460353;179460352 |
| N2B | 10178 | 30757;30758;30759 | chr2:178595627;178595626;178595625 | chr2:179460354;179460353;179460352 |
| Novex-1 | 10303 | 31132;31133;31134 | chr2:178595627;178595626;178595625 | chr2:179460354;179460353;179460352 |
| Novex-2 | 10370 | 31333;31334;31335 | chr2:178595627;178595626;178595625 | chr2:179460354;179460353;179460352 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs1313667626  |
0.002 | 1.0 | N | 0.833 | 0.55 | 0.51792882206 | gnomAD-2.1.1 | 4.29E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.56E-06 | 0 |
| A/P | rs1313667626 |
0.002 | 1.0 | N | 0.833 | 0.55 | 0.51792882206 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/P | rs1313667626 |
0.002 | 1.0 | N | 0.833 | 0.55 | 0.51792882206 | gnomAD-4.0.0 | 4.99061E-06 | None | None | None | None | N | None | 0 | 1.70509E-05 | None | 0 | 0 | None | 0 | 0 | 5.10856E-06 | 0 | 1.61031E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4309 | ambiguous | 0.4394 | ambiguous | -0.859 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| A/D | 0.8946 | likely_pathogenic | 0.8935 | pathogenic | -1.206 | Destabilizing | 1.0 | D | 0.853 | deleterious | N | 0.506428887 | None | None | N |
| A/E | 0.8541 | likely_pathogenic | 0.8481 | pathogenic | -1.14 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| A/F | 0.5419 | ambiguous | 0.5048 | ambiguous | -0.775 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| A/G | 0.3001 | likely_benign | 0.315 | benign | -1.189 | Destabilizing | 1.0 | D | 0.61 | neutral | N | 0.488235726 | None | None | N |
| A/H | 0.8493 | likely_pathogenic | 0.8371 | pathogenic | -1.359 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| A/I | 0.4333 | ambiguous | 0.425 | ambiguous | 0.032 | Stabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| A/K | 0.9489 | likely_pathogenic | 0.9493 | pathogenic | -1.063 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/L | 0.3805 | ambiguous | 0.36 | ambiguous | 0.032 | Stabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| A/M | 0.4112 | ambiguous | 0.3988 | ambiguous | -0.057 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| A/N | 0.7846 | likely_pathogenic | 0.7772 | pathogenic | -1.031 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| A/P | 0.9799 | likely_pathogenic | 0.9826 | pathogenic | -0.211 | Destabilizing | 1.0 | D | 0.833 | deleterious | N | 0.506428887 | None | None | N |
| A/Q | 0.8275 | likely_pathogenic | 0.8196 | pathogenic | -1.03 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/R | 0.91 | likely_pathogenic | 0.9091 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/S | 0.1964 | likely_benign | 0.2012 | benign | -1.456 | Destabilizing | 1.0 | D | 0.608 | neutral | D | 0.525986351 | None | None | N |
| A/T | 0.1805 | likely_benign | 0.1797 | benign | -1.264 | Destabilizing | 1.0 | D | 0.754 | deleterious | D | 0.522868688 | None | None | N |
| A/V | 0.2136 | likely_benign | 0.2125 | benign | -0.211 | Destabilizing | 1.0 | D | 0.668 | neutral | N | 0.49258028 | None | None | N |
| A/W | 0.9283 | likely_pathogenic | 0.9156 | pathogenic | -1.27 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| A/Y | 0.7444 | likely_pathogenic | 0.7323 | pathogenic | -0.753 | Destabilizing | 1.0 | D | 0.895 | 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.