Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24091 | 72496;72497;72498 | chr2:178573861;178573860;178573859 | chr2:179438588;179438587;179438586 |
| N2AB | 22450 | 67573;67574;67575 | chr2:178573861;178573860;178573859 | chr2:179438588;179438587;179438586 |
| N2A | 21523 | 64792;64793;64794 | chr2:178573861;178573860;178573859 | chr2:179438588;179438587;179438586 |
| N2B | 15026 | 45301;45302;45303 | chr2:178573861;178573860;178573859 | chr2:179438588;179438587;179438586 |
| Novex-1 | 15151 | 45676;45677;45678 | chr2:178573861;178573860;178573859 | chr2:179438588;179438587;179438586 |
| Novex-2 | 15218 | 45877;45878;45879 | chr2:178573861;178573860;178573859 | chr2:179438588;179438587;179438586 |
| 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/G | rs749484938  |
-0.138 | 1.0 | N | 0.696 | 0.476 | 0.198526703765 | gnomAD-2.1.1 | 5.24E-05 | None | None | None | None | N | None | 0 | 0 | None | 1.20024E-03 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| D/G | rs749484938 |
-0.138 | 1.0 | N | 0.696 | 0.476 | 0.198526703765 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 2.01729E-03 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | rs749484938 |
-0.138 | 1.0 | N | 0.696 | 0.476 | 0.198526703765 | gnomAD-4.0.0 | 2.48323E-05 | None | None | None | None | N | None | 0 | 0 | None | 1.21869E-03 | 0 | None | 0 | 0 | 3.3964E-06 | 0 | 0 |
| D/H | rs878924658 |
-0.66 | 1.0 | N | 0.682 | 0.422 | None | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.23E-05 | 0 |
| D/H | rs878924658 |
-0.66 | 1.0 | N | 0.682 | 0.422 | None | gnomAD-4.0.0 | 1.02842E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.35181E-05 | 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 | 0.3362 | likely_benign | 0.3248 | benign | -0.198 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | N | 0.462479744 | None | None | N |
| D/C | 0.7924 | likely_pathogenic | 0.7669 | pathogenic | 0.402 | Stabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| D/E | 0.2461 | likely_benign | 0.2286 | benign | -0.265 | Destabilizing | 1.0 | D | 0.439 | neutral | N | 0.488416893 | None | None | N |
| D/F | 0.6014 | likely_pathogenic | 0.5939 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| D/G | 0.288 | likely_benign | 0.3327 | benign | -0.358 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | N | 0.455300494 | None | None | N |
| D/H | 0.5291 | ambiguous | 0.4862 | ambiguous | -0.704 | Destabilizing | 1.0 | D | 0.682 | prob.neutral | N | 0.469823578 | None | None | N |
| D/I | 0.489 | ambiguous | 0.4557 | ambiguous | 0.162 | Stabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| D/K | 0.6982 | likely_pathogenic | 0.6398 | pathogenic | 0.457 | Stabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| D/L | 0.5612 | ambiguous | 0.5225 | ambiguous | 0.162 | Stabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| D/M | 0.7623 | likely_pathogenic | 0.7456 | pathogenic | 0.556 | Stabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| D/N | 0.1835 | likely_benign | 0.1797 | benign | 0.349 | Stabilizing | 1.0 | D | 0.648 | neutral | N | 0.456205687 | None | None | N |
| D/P | 0.9562 | likely_pathogenic | 0.9476 | pathogenic | 0.063 | Stabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| D/Q | 0.5926 | likely_pathogenic | 0.5369 | ambiguous | 0.338 | Stabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| D/R | 0.7045 | likely_pathogenic | 0.6575 | pathogenic | 0.333 | Stabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| D/S | 0.2813 | likely_benign | 0.2714 | benign | 0.242 | Stabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | N |
| D/T | 0.4751 | ambiguous | 0.4397 | ambiguous | 0.361 | Stabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| D/V | 0.3064 | likely_benign | 0.295 | benign | 0.063 | Stabilizing | 1.0 | D | 0.775 | deleterious | N | 0.477572259 | None | None | N |
| D/W | 0.9245 | likely_pathogenic | 0.9181 | pathogenic | -0.59 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| D/Y | 0.2181 | likely_benign | 0.2123 | benign | -0.374 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | N | 0.477318769 | 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.