Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22893 | 68902;68903;68904 | chr2:178577749;178577748;178577747 | chr2:179442476;179442475;179442474 |
| N2AB | 21252 | 63979;63980;63981 | chr2:178577749;178577748;178577747 | chr2:179442476;179442475;179442474 |
| N2A | 20325 | 61198;61199;61200 | chr2:178577749;178577748;178577747 | chr2:179442476;179442475;179442474 |
| N2B | 13828 | 41707;41708;41709 | chr2:178577749;178577748;178577747 | chr2:179442476;179442475;179442474 |
| Novex-1 | 13953 | 42082;42083;42084 | chr2:178577749;178577748;178577747 | chr2:179442476;179442475;179442474 |
| Novex-2 | 14020 | 42283;42284;42285 | chr2:178577749;178577748;178577747 | chr2:179442476;179442475;179442474 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/D | rs2046760541  |
None | 0.822 | N | 0.449 | 0.331 | 0.332386209738 | gnomAD-4.0.0 | 1.36877E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79922E-06 | 0 | 0 |
| H/R | rs1039583705 |
None | 0.942 | N | 0.433 | 0.297 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| H/R | rs1039583705 |
None | 0.942 | N | 0.433 | 0.297 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/R | rs1039583705 |
None | 0.942 | N | 0.433 | 0.297 | None | gnomAD-4.0.0 | 3.09923E-06 | None | None | None | None | I | None | 1.33483E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39101E-06 | 0 | 0 |
| H/Y | None | None | 0.966 | N | 0.453 | 0.334 | 0.302459207581 | gnomAD-4.0.0 | 6.84387E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65711E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.2748 | likely_benign | 0.35 | ambiguous | 0.526 | Stabilizing | 0.754 | D | 0.506 | neutral | None | None | None | None | I |
| H/C | 0.2716 | likely_benign | 0.294 | benign | 0.657 | Stabilizing | 0.998 | D | 0.625 | neutral | None | None | None | None | I |
| H/D | 0.2848 | likely_benign | 0.3649 | ambiguous | -0.198 | Destabilizing | 0.822 | D | 0.449 | neutral | N | 0.400155695 | None | None | I |
| H/E | 0.4086 | ambiguous | 0.4963 | ambiguous | -0.193 | Destabilizing | 0.86 | D | 0.481 | neutral | None | None | None | None | I |
| H/F | 0.2884 | likely_benign | 0.3218 | benign | 1.032 | Stabilizing | 0.978 | D | 0.499 | neutral | None | None | None | None | I |
| H/G | 0.3454 | ambiguous | 0.4179 | ambiguous | 0.308 | Stabilizing | 0.86 | D | 0.487 | neutral | None | None | None | None | I |
| H/I | 0.306 | likely_benign | 0.3794 | ambiguous | 1.061 | Stabilizing | 0.956 | D | 0.611 | neutral | None | None | None | None | I |
| H/K | 0.3436 | ambiguous | 0.4184 | ambiguous | 0.439 | Stabilizing | 0.86 | D | 0.455 | neutral | None | None | None | None | I |
| H/L | 0.1383 | likely_benign | 0.1605 | benign | 1.061 | Stabilizing | 0.698 | D | 0.496 | neutral | N | 0.465495253 | None | None | I |
| H/M | 0.4036 | ambiguous | 0.4796 | ambiguous | 0.698 | Stabilizing | 0.998 | D | 0.587 | neutral | None | None | None | None | I |
| H/N | 0.1129 | likely_benign | 0.1442 | benign | 0.3 | Stabilizing | 0.822 | D | 0.517 | neutral | N | 0.447485495 | None | None | I |
| H/P | 0.1945 | likely_benign | 0.2161 | benign | 0.906 | Stabilizing | 0.97 | D | 0.575 | neutral | N | 0.457702489 | None | None | I |
| H/Q | 0.2315 | likely_benign | 0.2849 | benign | 0.361 | Stabilizing | 0.97 | D | 0.483 | neutral | N | 0.452160596 | None | None | I |
| H/R | 0.171 | likely_benign | 0.2014 | benign | -0.056 | Destabilizing | 0.942 | D | 0.433 | neutral | N | 0.436537783 | None | None | I |
| H/S | 0.2287 | likely_benign | 0.289 | benign | 0.452 | Stabilizing | 0.754 | D | 0.505 | neutral | None | None | None | None | I |
| H/T | 0.2335 | likely_benign | 0.3111 | benign | 0.549 | Stabilizing | 0.019 | N | 0.363 | neutral | None | None | None | None | I |
| H/V | 0.2544 | likely_benign | 0.3102 | benign | 0.906 | Stabilizing | 0.915 | D | 0.498 | neutral | None | None | None | None | I |
| H/W | 0.4175 | ambiguous | 0.4629 | ambiguous | 0.904 | Stabilizing | 0.998 | D | 0.633 | neutral | None | None | None | None | I |
| H/Y | 0.1076 | likely_benign | 0.1185 | benign | 1.178 | Stabilizing | 0.966 | D | 0.453 | neutral | N | 0.437847292 | None | None | I |
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.