Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15711 | 47356;47357;47358 | chr2:178618327;178618326;178618325 | chr2:179483054;179483053;179483052 |
| N2AB | 14070 | 42433;42434;42435 | chr2:178618327;178618326;178618325 | chr2:179483054;179483053;179483052 |
| N2A | 13143 | 39652;39653;39654 | chr2:178618327;178618326;178618325 | chr2:179483054;179483053;179483052 |
| N2B | 6646 | 20161;20162;20163 | chr2:178618327;178618326;178618325 | chr2:179483054;179483053;179483052 |
| Novex-1 | 6771 | 20536;20537;20538 | chr2:178618327;178618326;178618325 | chr2:179483054;179483053;179483052 |
| Novex-2 | 6838 | 20737;20738;20739 | chr2:178618327;178618326;178618325 | chr2:179483054;179483053;179483052 |
| 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/T | rs766281773  |
-0.931 | 0.999 | N | 0.749 | 0.241 | 0.373715746628 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.81E-05 | None | 0 | 0 | 0 |
| A/T | rs766281773 |
-0.931 | 0.999 | N | 0.749 | 0.241 | 0.373715746628 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| A/T | rs766281773 |
-0.931 | 0.999 | N | 0.749 | 0.241 | 0.373715746628 | gnomAD-4.0.0 | 5.58114E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54425E-06 | 5.49028E-05 | 1.60277E-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 | 0.5992 | likely_pathogenic | 0.4776 | ambiguous | -0.555 | Destabilizing | 0.844 | D | 0.419 | neutral | None | None | None | None | N |
| A/D | 0.8664 | likely_pathogenic | 0.87 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| A/E | 0.78 | likely_pathogenic | 0.7978 | pathogenic | -0.349 | Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.495255768 | None | None | N |
| A/F | 0.8068 | likely_pathogenic | 0.7977 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/G | 0.3104 | likely_benign | 0.2814 | benign | -0.895 | Destabilizing | 0.998 | D | 0.63 | neutral | N | 0.442504655 | None | None | N |
| A/H | 0.904 | likely_pathogenic | 0.8953 | pathogenic | -1.249 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| A/I | 0.5453 | ambiguous | 0.5077 | ambiguous | 0.516 | Stabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| A/K | 0.9322 | likely_pathogenic | 0.9303 | pathogenic | -0.404 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| A/L | 0.4687 | ambiguous | 0.433 | ambiguous | 0.516 | Stabilizing | 0.997 | D | 0.644 | neutral | None | None | None | None | N |
| A/M | 0.5536 | ambiguous | 0.5515 | ambiguous | 0.215 | Stabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| A/N | 0.7747 | likely_pathogenic | 0.757 | pathogenic | -0.392 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| A/P | 0.8082 | likely_pathogenic | 0.6991 | pathogenic | 0.226 | Stabilizing | 1.0 | D | 0.801 | deleterious | N | 0.457224621 | None | None | N |
| A/Q | 0.8025 | likely_pathogenic | 0.8056 | pathogenic | -0.275 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| A/R | 0.8913 | likely_pathogenic | 0.8903 | pathogenic | -0.586 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| A/S | 0.1748 | likely_benign | 0.168 | benign | -0.93 | Destabilizing | 0.998 | D | 0.614 | neutral | N | 0.466373662 | None | None | N |
| A/T | 0.2124 | likely_benign | 0.2064 | benign | -0.678 | Destabilizing | 0.999 | D | 0.749 | deleterious | N | 0.461108689 | None | None | N |
| A/V | 0.2528 | likely_benign | 0.2324 | benign | 0.226 | Stabilizing | 0.996 | D | 0.648 | neutral | N | 0.430394335 | None | None | N |
| A/W | 0.9652 | likely_pathogenic | 0.9647 | pathogenic | -0.93 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| A/Y | 0.8987 | likely_pathogenic | 0.8894 | pathogenic | -0.34 | Destabilizing | 1.0 | D | 0.856 | 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.