Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31728 | 95407;95408;95409 | chr2:178546054;178546053;178546052 | chr2:179410781;179410780;179410779 |
| N2AB | 30087 | 90484;90485;90486 | chr2:178546054;178546053;178546052 | chr2:179410781;179410780;179410779 |
| N2A | 29160 | 87703;87704;87705 | chr2:178546054;178546053;178546052 | chr2:179410781;179410780;179410779 |
| N2B | 22663 | 68212;68213;68214 | chr2:178546054;178546053;178546052 | chr2:179410781;179410780;179410779 |
| Novex-1 | 22788 | 68587;68588;68589 | chr2:178546054;178546053;178546052 | chr2:179410781;179410780;179410779 |
| Novex-2 | 22855 | 68788;68789;68790 | chr2:178546054;178546053;178546052 | chr2:179410781;179410780;179410779 |
| 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/S | rs1360534996  |
None | 0.025 | N | 0.331 | 0.077 | 0.184867976434 | 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/S | rs1360534996 |
None | 0.025 | N | 0.331 | 0.077 | 0.184867976434 | gnomAD-4.0.0 | 6.57004E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47003E-05 | 0 | 0 |
| A/T | None | None | 0.698 | N | 0.467 | 0.102 | 0.313818047136 | gnomAD-4.0.0 | 3.18359E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.7186E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3207 | likely_benign | 0.3282 | benign | -0.96 | Destabilizing | 0.998 | D | 0.632 | neutral | None | None | None | None | N |
| A/D | 0.3734 | ambiguous | 0.3774 | ambiguous | -1.005 | Destabilizing | 0.942 | D | 0.637 | neutral | N | 0.499394396 | None | None | N |
| A/E | 0.3001 | likely_benign | 0.2906 | benign | -0.937 | Destabilizing | 0.86 | D | 0.603 | neutral | None | None | None | None | N |
| A/F | 0.2394 | likely_benign | 0.2543 | benign | -0.764 | Destabilizing | 0.978 | D | 0.776 | deleterious | None | None | None | None | N |
| A/G | 0.1369 | likely_benign | 0.1473 | benign | -1.16 | Destabilizing | 0.489 | N | 0.489 | neutral | D | 0.522828616 | None | None | N |
| A/H | 0.3447 | ambiguous | 0.3414 | ambiguous | -1.428 | Destabilizing | 0.994 | D | 0.752 | deleterious | None | None | None | None | N |
| A/I | 0.2067 | likely_benign | 0.2174 | benign | 0.069 | Stabilizing | 0.978 | D | 0.697 | prob.neutral | None | None | None | None | N |
| A/K | 0.4943 | ambiguous | 0.4913 | ambiguous | -0.951 | Destabilizing | 0.754 | D | 0.597 | neutral | None | None | None | None | N |
| A/L | 0.1368 | likely_benign | 0.1353 | benign | 0.069 | Stabilizing | 0.86 | D | 0.567 | neutral | None | None | None | None | N |
| A/M | 0.1674 | likely_benign | 0.1726 | benign | -0.113 | Destabilizing | 0.998 | D | 0.714 | prob.delet. | None | None | None | None | N |
| A/N | 0.2073 | likely_benign | 0.2198 | benign | -0.911 | Destabilizing | 0.915 | D | 0.633 | neutral | None | None | None | None | N |
| A/P | 0.9249 | likely_pathogenic | 0.921 | pathogenic | -0.176 | Destabilizing | 0.971 | D | 0.691 | prob.neutral | N | 0.49187935 | None | None | N |
| A/Q | 0.2802 | likely_benign | 0.279 | benign | -0.891 | Destabilizing | 0.956 | D | 0.709 | prob.delet. | None | None | None | None | N |
| A/R | 0.4373 | ambiguous | 0.4242 | ambiguous | -0.875 | Destabilizing | 0.956 | D | 0.709 | prob.delet. | None | None | None | None | N |
| A/S | 0.0726 | likely_benign | 0.077 | benign | -1.385 | Destabilizing | 0.025 | N | 0.331 | neutral | N | 0.353780326 | None | None | N |
| A/T | 0.0729 | likely_benign | 0.0738 | benign | -1.19 | Destabilizing | 0.698 | D | 0.467 | neutral | N | 0.384183378 | None | None | N |
| A/V | 0.1241 | likely_benign | 0.127 | benign | -0.176 | Destabilizing | 0.822 | D | 0.554 | neutral | N | 0.495604729 | None | None | N |
| A/W | 0.6374 | likely_pathogenic | 0.6489 | pathogenic | -1.263 | Destabilizing | 0.998 | D | 0.733 | prob.delet. | None | None | None | None | N |
| A/Y | 0.3245 | likely_benign | 0.3461 | ambiguous | -0.738 | Destabilizing | 0.993 | D | 0.773 | 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.