Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31011 | 93256;93257;93258 | chr2:178548595;178548594;178548593 | chr2:179413322;179413321;179413320 |
| N2AB | 29370 | 88333;88334;88335 | chr2:178548595;178548594;178548593 | chr2:179413322;179413321;179413320 |
| N2A | 28443 | 85552;85553;85554 | chr2:178548595;178548594;178548593 | chr2:179413322;179413321;179413320 |
| N2B | 21946 | 66061;66062;66063 | chr2:178548595;178548594;178548593 | chr2:179413322;179413321;179413320 |
| Novex-1 | 22071 | 66436;66437;66438 | chr2:178548595;178548594;178548593 | chr2:179413322;179413321;179413320 |
| Novex-2 | 22138 | 66637;66638;66639 | chr2:178548595;178548594;178548593 | chr2:179413322;179413321;179413320 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.999 | N | 0.636 | 0.483 | 0.52186301387 | gnomAD-4.0.0 | 1.59111E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 0 |
| V/M | rs369206712  |
-0.637 | 1.0 | N | 0.791 | 0.374 | None | gnomAD-2.1.1 | 4.64E-05 | None | None | None | None | N | None | 2.06629E-04 | 5.65E-05 | None | 0 | 0 | None | 3.27E-05 | None | 1.59847E-04 | 7.83E-06 | 0 |
| V/M | rs369206712 |
-0.637 | 1.0 | N | 0.791 | 0.374 | None | gnomAD-3.1.2 | 1.05183E-04 | None | None | None | None | N | None | 1.44837E-04 | 5.89855E-04 | 0 | 0 | 1.92308E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs369206712 |
-0.637 | 1.0 | N | 0.791 | 0.374 | None | gnomAD-4.0.0 | 2.66466E-05 | None | None | None | None | N | None | 1.46874E-04 | 2.00073E-04 | None | 0 | 2.22727E-05 | None | 1.09382E-04 | 0 | 5.93315E-06 | 3.29359E-05 | 3.20236E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.9116 | likely_pathogenic | 0.8966 | pathogenic | -2.275 | Highly Destabilizing | 0.999 | D | 0.636 | neutral | N | 0.517849828 | None | None | N |
| V/C | 0.9669 | likely_pathogenic | 0.9635 | pathogenic | -1.927 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| V/D | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -3.067 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| V/E | 0.9975 | likely_pathogenic | 0.9972 | pathogenic | -2.838 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | N | 0.518356807 | None | None | N |
| V/F | 0.9174 | likely_pathogenic | 0.9168 | pathogenic | -1.338 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| V/G | 0.9661 | likely_pathogenic | 0.9603 | pathogenic | -2.827 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | N | 0.518356807 | None | None | N |
| V/H | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -2.587 | Highly Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| V/I | 0.141 | likely_benign | 0.1431 | benign | -0.721 | Destabilizing | 0.998 | D | 0.563 | neutral | None | None | None | None | N |
| V/K | 0.9978 | likely_pathogenic | 0.9976 | pathogenic | -1.919 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| V/L | 0.7742 | likely_pathogenic | 0.7886 | pathogenic | -0.721 | Destabilizing | 0.999 | D | 0.66 | neutral | N | 0.49315263 | None | None | N |
| V/M | 0.7933 | likely_pathogenic | 0.7529 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.791 | deleterious | N | 0.517342849 | None | None | N |
| V/N | 0.9969 | likely_pathogenic | 0.9963 | pathogenic | -2.305 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/P | 0.9973 | likely_pathogenic | 0.9967 | pathogenic | -1.214 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| V/Q | 0.9964 | likely_pathogenic | 0.996 | pathogenic | -2.128 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| V/R | 0.9953 | likely_pathogenic | 0.9949 | pathogenic | -1.737 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/S | 0.9841 | likely_pathogenic | 0.9795 | pathogenic | -2.91 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| V/T | 0.9278 | likely_pathogenic | 0.9139 | pathogenic | -2.538 | Highly Destabilizing | 0.999 | D | 0.676 | prob.neutral | None | None | None | None | N |
| V/W | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -1.902 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| V/Y | 0.9957 | likely_pathogenic | 0.9949 | pathogenic | -1.554 | Destabilizing | 1.0 | D | 0.807 | 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.