Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23287 | 70084;70085;70086 | chr2:178576273;178576272;178576271 | chr2:179441000;179440999;179440998 |
| N2AB | 21646 | 65161;65162;65163 | chr2:178576273;178576272;178576271 | chr2:179441000;179440999;179440998 |
| N2A | 20719 | 62380;62381;62382 | chr2:178576273;178576272;178576271 | chr2:179441000;179440999;179440998 |
| N2B | 14222 | 42889;42890;42891 | chr2:178576273;178576272;178576271 | chr2:179441000;179440999;179440998 |
| Novex-1 | 14347 | 43264;43265;43266 | chr2:178576273;178576272;178576271 | chr2:179441000;179440999;179440998 |
| Novex-2 | 14414 | 43465;43466;43467 | chr2:178576273;178576272;178576271 | chr2:179441000;179440999;179440998 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/S | None | None | 1.0 | N | 0.709 | 0.444 | 0.764652029926 | gnomAD-4.0.0 | 1.61185E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.88241E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9758 | likely_pathogenic | 0.9758 | pathogenic | -2.84 | Highly Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| W/C | 0.9924 | likely_pathogenic | 0.9911 | pathogenic | -1.009 | Destabilizing | 1.0 | D | 0.637 | neutral | N | 0.509361267 | None | None | N |
| W/D | 0.9923 | likely_pathogenic | 0.9931 | pathogenic | -1.186 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| W/E | 0.994 | likely_pathogenic | 0.994 | pathogenic | -1.127 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| W/F | 0.5949 | likely_pathogenic | 0.6088 | pathogenic | -1.826 | Destabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| W/G | 0.9305 | likely_pathogenic | 0.9336 | pathogenic | -3.028 | Highly Destabilizing | 1.0 | D | 0.643 | neutral | D | 0.538061359 | None | None | N |
| W/H | 0.9886 | likely_pathogenic | 0.9879 | pathogenic | -1.324 | Destabilizing | 1.0 | D | 0.63 | neutral | None | None | None | None | N |
| W/I | 0.9677 | likely_pathogenic | 0.9686 | pathogenic | -2.173 | Highly Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| W/K | 0.9976 | likely_pathogenic | 0.9973 | pathogenic | -1.211 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| W/L | 0.9248 | likely_pathogenic | 0.9281 | pathogenic | -2.173 | Highly Destabilizing | 1.0 | D | 0.643 | neutral | N | 0.513320832 | None | None | N |
| W/M | 0.9754 | likely_pathogenic | 0.9763 | pathogenic | -1.565 | Destabilizing | 1.0 | D | 0.654 | neutral | None | None | None | None | N |
| W/N | 0.9906 | likely_pathogenic | 0.991 | pathogenic | -1.43 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| W/P | 0.9849 | likely_pathogenic | 0.9851 | pathogenic | -2.408 | Highly Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| W/Q | 0.9973 | likely_pathogenic | 0.997 | pathogenic | -1.486 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| W/R | 0.996 | likely_pathogenic | 0.9954 | pathogenic | -0.58 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | D | 0.526451564 | None | None | N |
| W/S | 0.9612 | likely_pathogenic | 0.9604 | pathogenic | -1.94 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.519361219 | None | None | N |
| W/T | 0.9767 | likely_pathogenic | 0.9769 | pathogenic | -1.838 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| W/V | 0.962 | likely_pathogenic | 0.9633 | pathogenic | -2.408 | Highly Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| W/Y | 0.8403 | likely_pathogenic | 0.8412 | pathogenic | -1.631 | Destabilizing | 1.0 | D | 0.584 | 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.