Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32030 | 96313;96314;96315 | chr2:178544056;178544055;178544054 | chr2:179408783;179408782;179408781 |
| N2AB | 30389 | 91390;91391;91392 | chr2:178544056;178544055;178544054 | chr2:179408783;179408782;179408781 |
| N2A | 29462 | 88609;88610;88611 | chr2:178544056;178544055;178544054 | chr2:179408783;179408782;179408781 |
| N2B | 22965 | 69118;69119;69120 | chr2:178544056;178544055;178544054 | chr2:179408783;179408782;179408781 |
| Novex-1 | 23090 | 69493;69494;69495 | chr2:178544056;178544055;178544054 | chr2:179408783;179408782;179408781 |
| Novex-2 | 23157 | 69694;69695;69696 | chr2:178544056;178544055;178544054 | chr2:179408783;179408782;179408781 |
| 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/D | rs781660295  |
None | 0.096 | N | 0.518 | 0.151 | 0.286465849087 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/D | rs781660295 |
None | 0.096 | N | 0.518 | 0.151 | 0.286465849087 | gnomAD-4.0.0 | 6.57454E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47037E-05 | 0 | 0 |
| A/V | rs781660295 |
-0.55 | 0.001 | N | 0.171 | 0.123 | 0.202949470691 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs781660295 |
-0.55 | 0.001 | N | 0.171 | 0.123 | 0.202949470691 | gnomAD-4.0.0 | 1.59192E-06 | None | None | None | None | N | None | 0 | 2.28634E-05 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.2771 | likely_benign | 0.2686 | benign | -0.788 | Destabilizing | 0.002 | N | 0.336 | neutral | None | None | None | None | N |
| A/D | 0.3989 | ambiguous | 0.3928 | ambiguous | -0.374 | Destabilizing | 0.096 | N | 0.518 | neutral | N | 0.455512254 | None | None | N |
| A/E | 0.4116 | ambiguous | 0.3882 | ambiguous | -0.509 | Destabilizing | 0.22 | N | 0.511 | neutral | None | None | None | None | N |
| A/F | 0.3902 | ambiguous | 0.3536 | ambiguous | -0.95 | Destabilizing | 0.497 | N | 0.546 | neutral | None | None | None | None | N |
| A/G | 0.095 | likely_benign | 0.087 | benign | -0.535 | Destabilizing | None | N | 0.128 | neutral | N | 0.406259656 | None | None | N |
| A/H | 0.5147 | ambiguous | 0.5028 | ambiguous | -0.591 | Destabilizing | 0.667 | D | 0.538 | neutral | None | None | None | None | N |
| A/I | 0.3246 | likely_benign | 0.3038 | benign | -0.358 | Destabilizing | 0.046 | N | 0.514 | neutral | None | None | None | None | N |
| A/K | 0.6461 | likely_pathogenic | 0.617 | pathogenic | -0.677 | Destabilizing | 0.22 | N | 0.511 | neutral | None | None | None | None | N |
| A/L | 0.2075 | likely_benign | 0.1945 | benign | -0.358 | Destabilizing | 0.055 | N | 0.489 | neutral | None | None | None | None | N |
| A/M | 0.2231 | likely_benign | 0.2172 | benign | -0.328 | Destabilizing | 0.497 | N | 0.538 | neutral | None | None | None | None | N |
| A/N | 0.1994 | likely_benign | 0.1963 | benign | -0.349 | Destabilizing | 0.004 | N | 0.267 | neutral | None | None | None | None | N |
| A/P | 0.8332 | likely_pathogenic | 0.8038 | pathogenic | -0.347 | Destabilizing | 0.301 | N | 0.54 | neutral | N | 0.462173348 | None | None | N |
| A/Q | 0.3846 | ambiguous | 0.3647 | ambiguous | -0.616 | Destabilizing | 0.667 | D | 0.531 | neutral | None | None | None | None | N |
| A/R | 0.584 | likely_pathogenic | 0.5523 | ambiguous | -0.253 | Destabilizing | 0.497 | N | 0.539 | neutral | None | None | None | None | N |
| A/S | 0.0766 | likely_benign | 0.0744 | benign | -0.63 | Destabilizing | 0.042 | N | 0.401 | neutral | N | 0.406913017 | None | None | N |
| A/T | 0.0887 | likely_benign | 0.0854 | benign | -0.677 | Destabilizing | 0.001 | N | 0.173 | neutral | N | 0.473927443 | None | None | N |
| A/V | 0.1636 | likely_benign | 0.1528 | benign | -0.347 | Destabilizing | 0.001 | N | 0.171 | neutral | N | 0.472004646 | None | None | N |
| A/W | 0.7899 | likely_pathogenic | 0.7657 | pathogenic | -1.104 | Destabilizing | 0.958 | D | 0.557 | neutral | None | None | None | None | N |
| A/Y | 0.4831 | ambiguous | 0.4602 | ambiguous | -0.738 | Destabilizing | 0.667 | D | 0.553 | neutral | 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.