Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31755 | 95488;95489;95490 | chr2:178545973;178545972;178545971 | chr2:179410700;179410699;179410698 |
| N2AB | 30114 | 90565;90566;90567 | chr2:178545973;178545972;178545971 | chr2:179410700;179410699;179410698 |
| N2A | 29187 | 87784;87785;87786 | chr2:178545973;178545972;178545971 | chr2:179410700;179410699;179410698 |
| N2B | 22690 | 68293;68294;68295 | chr2:178545973;178545972;178545971 | chr2:179410700;179410699;179410698 |
| Novex-1 | 22815 | 68668;68669;68670 | chr2:178545973;178545972;178545971 | chr2:179410700;179410699;179410698 |
| Novex-2 | 22882 | 68869;68870;68871 | chr2:178545973;178545972;178545971 | chr2:179410700;179410699;179410698 |
| 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/C | rs755654150  |
-1.199 | 1.0 | D | 0.699 | 0.622 | 0.65561748683 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| W/C | rs755654150 |
-1.199 | 1.0 | D | 0.699 | 0.622 | 0.65561748683 | gnomAD-4.0.0 | 1.59124E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85822E-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 | 0.9949 | likely_pathogenic | 0.9936 | pathogenic | -3.079 | Highly Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| W/C | 0.9981 | likely_pathogenic | 0.9971 | pathogenic | -1.203 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | D | 0.539480164 | None | None | I |
| W/D | 0.9988 | likely_pathogenic | 0.9986 | pathogenic | -1.782 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | I |
| W/E | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -1.727 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| W/F | 0.7754 | likely_pathogenic | 0.7583 | pathogenic | -1.983 | Destabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | I |
| W/G | 0.9815 | likely_pathogenic | 0.9803 | pathogenic | -3.261 | Highly Destabilizing | 1.0 | D | 0.685 | prob.neutral | D | 0.545467645 | None | None | I |
| W/H | 0.9921 | likely_pathogenic | 0.9905 | pathogenic | -1.545 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | I |
| W/I | 0.9968 | likely_pathogenic | 0.9953 | pathogenic | -2.416 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| W/K | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.475 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| W/L | 0.986 | likely_pathogenic | 0.9818 | pathogenic | -2.416 | Highly Destabilizing | 1.0 | D | 0.685 | prob.neutral | D | 0.525335474 | None | None | I |
| W/M | 0.9962 | likely_pathogenic | 0.9951 | pathogenic | -1.782 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | I |
| W/N | 0.9984 | likely_pathogenic | 0.9979 | pathogenic | -1.733 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| W/P | 0.997 | likely_pathogenic | 0.9966 | pathogenic | -2.653 | Highly Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| W/Q | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.813 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| W/R | 0.9989 | likely_pathogenic | 0.9987 | pathogenic | -0.79 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.538466206 | None | None | I |
| W/S | 0.9885 | likely_pathogenic | 0.9867 | pathogenic | -2.176 | Highly Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.526602921 | None | None | I |
| W/T | 0.9948 | likely_pathogenic | 0.9934 | pathogenic | -2.075 | Highly Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| W/V | 0.995 | likely_pathogenic | 0.9932 | pathogenic | -2.653 | Highly Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| W/Y | 0.88 | likely_pathogenic | 0.8708 | pathogenic | -1.77 | Destabilizing | 1.0 | D | 0.607 | neutral | None | None | 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.