Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10097 | 30514;30515;30516 | chr2:178702598;178702597;178702596 | chr2:179567325;179567324;179567323 |
| N2AB | 9780 | 29563;29564;29565 | chr2:178702598;178702597;178702596 | chr2:179567325;179567324;179567323 |
| N2A | 8853 | 26782;26783;26784 | chr2:178702598;178702597;178702596 | chr2:179567325;179567324;179567323 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/S | None | None | 0.999 | None | 0.867 | 0.878 | 0.869272637459 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -2.045 | Highly Destabilizing | 0.996 | D | 0.813 | deleterious | None | None | None | None | N |
| F/C | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| F/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.053 | Highly Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| F/E | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.798 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| F/G | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.518 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| F/H | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.778 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| F/I | 0.9912 | likely_pathogenic | 0.992 | pathogenic | -0.49 | Destabilizing | 0.978 | D | 0.62 | neutral | None | None | None | None | N |
| F/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.635 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| F/L | 0.9981 | likely_pathogenic | 0.9972 | pathogenic | -0.49 | Destabilizing | 0.217 | N | 0.289 | neutral | None | None | None | None | N |
| F/M | 0.9926 | likely_pathogenic | 0.9891 | pathogenic | -0.386 | Destabilizing | 0.998 | D | 0.661 | neutral | None | None | None | None | N |
| F/N | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.357 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| F/P | 1.0 | likely_pathogenic | 1.0 | pathogenic | -1.022 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| F/Q | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.087 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| F/R | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.723 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| F/S | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.765 | Highly Destabilizing | 0.999 | D | 0.867 | deleterious | None | None | None | None | N |
| F/T | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -2.376 | Highly Destabilizing | 0.999 | D | 0.853 | deleterious | None | None | None | None | N |
| F/V | 0.9928 | likely_pathogenic | 0.9927 | pathogenic | -1.022 | Destabilizing | 0.978 | D | 0.694 | prob.neutral | None | None | None | None | N |
| F/W | 0.9885 | likely_pathogenic | 0.9871 | pathogenic | 0.047 | Stabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | N |
| F/Y | 0.9674 | likely_pathogenic | 0.9618 | pathogenic | -0.32 | Destabilizing | 0.998 | D | 0.581 | 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.