Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17344 | 52255;52256;52257 | chr2:178609280;178609279;178609278 | chr2:179474007;179474006;179474005 |
| N2AB | 15703 | 47332;47333;47334 | chr2:178609280;178609279;178609278 | chr2:179474007;179474006;179474005 |
| N2A | 14776 | 44551;44552;44553 | chr2:178609280;178609279;178609278 | chr2:179474007;179474006;179474005 |
| N2B | 8279 | 25060;25061;25062 | chr2:178609280;178609279;178609278 | chr2:179474007;179474006;179474005 |
| Novex-1 | 8404 | 25435;25436;25437 | chr2:178609280;178609279;178609278 | chr2:179474007;179474006;179474005 |
| Novex-2 | 8471 | 25636;25637;25638 | chr2:178609280;178609279;178609278 | chr2:179474007;179474006;179474005 |
| 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/Q | None | None | 0.995 | D | 0.605 | 0.277 | 0.365120060079 | gnomAD-4.0.0 | 6.98497E-07 | None | None | None | None | N | None | 0 | 0 | None | 4.18585E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/R | rs748445315  |
-0.503 | 0.984 | N | 0.599 | 0.518 | 0.373715746628 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.89E-05 | 0 |
| H/R | rs748445315 |
-0.503 | 0.984 | N | 0.599 | 0.518 | 0.373715746628 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.42E-05 | 0 | 0 |
| H/R | rs748445315 |
-0.503 | 0.984 | N | 0.599 | 0.518 | 0.373715746628 | gnomAD-4.0.0 | 2.20971E-05 | None | None | None | None | N | None | 1.35435E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.91533E-05 | 0 | 0 |
| H/Y | rs770072826 |
0.947 | 0.026 | D | 0.246 | 0.24 | 0.252162846088 | gnomAD-2.1.1 | 1.34E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.91E-05 | 0 |
| H/Y | rs770072826 |
0.947 | 0.026 | D | 0.246 | 0.24 | 0.252162846088 | gnomAD-4.0.0 | 6.65885E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.89991E-06 | 0 | 3.14051E-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 | 0.4821 | ambiguous | 0.4423 | ambiguous | -0.618 | Destabilizing | 0.919 | D | 0.617 | neutral | None | None | None | None | N |
| H/C | 0.294 | likely_benign | 0.259 | benign | 0.205 | Stabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | N |
| H/D | 0.4669 | ambiguous | 0.4169 | ambiguous | -0.228 | Destabilizing | 0.995 | D | 0.702 | prob.neutral | N | 0.492922288 | None | None | N |
| H/E | 0.6237 | likely_pathogenic | 0.5794 | pathogenic | -0.152 | Destabilizing | 0.959 | D | 0.571 | neutral | None | None | None | None | N |
| H/F | 0.4887 | ambiguous | 0.453 | ambiguous | 0.373 | Stabilizing | 0.952 | D | 0.688 | prob.neutral | None | None | None | None | N |
| H/G | 0.4011 | ambiguous | 0.3719 | ambiguous | -0.965 | Destabilizing | 0.959 | D | 0.627 | neutral | None | None | None | None | N |
| H/I | 0.7863 | likely_pathogenic | 0.7385 | pathogenic | 0.322 | Stabilizing | 0.976 | D | 0.725 | prob.delet. | None | None | None | None | N |
| H/K | 0.4538 | ambiguous | 0.4102 | ambiguous | -0.47 | Destabilizing | 0.988 | D | 0.684 | prob.neutral | None | None | None | None | N |
| H/L | 0.3896 | ambiguous | 0.3445 | ambiguous | 0.322 | Stabilizing | 0.811 | D | 0.639 | neutral | N | 0.512028124 | None | None | N |
| H/M | 0.736 | likely_pathogenic | 0.7126 | pathogenic | 0.224 | Stabilizing | 0.999 | D | 0.703 | prob.neutral | None | None | None | None | N |
| H/N | 0.1839 | likely_benign | 0.1708 | benign | -0.416 | Destabilizing | 0.982 | D | 0.587 | neutral | D | 0.530536527 | None | None | N |
| H/P | 0.825 | likely_pathogenic | 0.7692 | pathogenic | 0.031 | Stabilizing | 0.995 | D | 0.736 | prob.delet. | D | 0.53122996 | None | None | N |
| H/Q | 0.3373 | likely_benign | 0.3155 | benign | -0.223 | Destabilizing | 0.995 | D | 0.605 | neutral | D | 0.53018981 | None | None | N |
| H/R | 0.1966 | likely_benign | 0.1732 | benign | -0.945 | Destabilizing | 0.984 | D | 0.599 | neutral | N | 0.45942579 | None | None | N |
| H/S | 0.2913 | likely_benign | 0.2789 | benign | -0.474 | Destabilizing | 0.959 | D | 0.66 | neutral | None | None | None | None | N |
| H/T | 0.3991 | ambiguous | 0.3841 | ambiguous | -0.298 | Destabilizing | 0.988 | D | 0.684 | prob.neutral | None | None | None | None | N |
| H/V | 0.6655 | likely_pathogenic | 0.6157 | pathogenic | 0.031 | Stabilizing | 0.976 | D | 0.676 | prob.neutral | None | None | None | None | N |
| H/W | 0.6305 | likely_pathogenic | 0.5909 | pathogenic | 0.602 | Stabilizing | 0.997 | D | 0.703 | prob.neutral | None | None | None | None | N |
| H/Y | 0.1845 | likely_benign | 0.1659 | benign | 0.771 | Stabilizing | 0.026 | N | 0.246 | neutral | D | 0.531403319 | 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.