Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27662 | 83209;83210;83211 | chr2:178563148;178563147;178563146 | chr2:179427875;179427874;179427873 |
| N2AB | 26021 | 78286;78287;78288 | chr2:178563148;178563147;178563146 | chr2:179427875;179427874;179427873 |
| N2A | 25094 | 75505;75506;75507 | chr2:178563148;178563147;178563146 | chr2:179427875;179427874;179427873 |
| N2B | 18597 | 56014;56015;56016 | chr2:178563148;178563147;178563146 | chr2:179427875;179427874;179427873 |
| Novex-1 | 18722 | 56389;56390;56391 | chr2:178563148;178563147;178563146 | chr2:179427875;179427874;179427873 |
| Novex-2 | 18789 | 56590;56591;56592 | chr2:178563148;178563147;178563146 | chr2:179427875;179427874;179427873 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1704305205  |
None | 0.999 | N | 0.708 | 0.361 | 0.27132560031 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/R | None | None | 0.999 | N | 0.819 | 0.43 | 0.63454643552 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1501 | likely_benign | 0.1468 | benign | -0.256 | Destabilizing | 0.998 | D | 0.579 | neutral | N | 0.485165215 | None | None | N |
| G/C | 0.2394 | likely_benign | 0.2238 | benign | -0.922 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | D | 0.525683047 | None | None | N |
| G/D | 0.2546 | likely_benign | 0.2176 | benign | -0.438 | Destabilizing | 0.999 | D | 0.708 | prob.delet. | N | 0.471408079 | None | None | N |
| G/E | 0.2698 | likely_benign | 0.2246 | benign | -0.597 | Destabilizing | 0.981 | D | 0.57 | neutral | None | None | None | None | N |
| G/F | 0.59 | likely_pathogenic | 0.5729 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/H | 0.4594 | ambiguous | 0.4141 | ambiguous | -0.48 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| G/I | 0.3176 | likely_benign | 0.2943 | benign | -0.415 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| G/K | 0.5236 | ambiguous | 0.4603 | ambiguous | -0.742 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| G/L | 0.4511 | ambiguous | 0.4409 | ambiguous | -0.415 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/M | 0.5054 | ambiguous | 0.5037 | ambiguous | -0.523 | Destabilizing | 1.0 | D | 0.728 | deleterious | None | None | None | None | N |
| G/N | 0.2894 | likely_benign | 0.2945 | benign | -0.425 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| G/P | 0.766 | likely_pathogenic | 0.7276 | pathogenic | -0.33 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/Q | 0.3986 | ambiguous | 0.3539 | ambiguous | -0.687 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/R | 0.4228 | ambiguous | 0.3531 | ambiguous | -0.336 | Destabilizing | 0.999 | D | 0.819 | deleterious | N | 0.4879536 | None | None | N |
| G/S | 0.1167 | likely_benign | 0.1171 | benign | -0.581 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | N | 0.505043897 | None | None | N |
| G/T | 0.1742 | likely_benign | 0.1753 | benign | -0.665 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/V | 0.2053 | likely_benign | 0.1917 | benign | -0.33 | Destabilizing | 1.0 | D | 0.817 | deleterious | N | 0.497410575 | None | None | N |
| G/W | 0.58 | likely_pathogenic | 0.5159 | ambiguous | -1.12 | Destabilizing | 1.0 | D | 0.706 | prob.delet. | None | None | None | None | N |
| G/Y | 0.5034 | ambiguous | 0.4691 | ambiguous | -0.773 | Destabilizing | 1.0 | D | 0.82 | 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.