Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16176 | 48751;48752;48753 | chr2:178615419;178615418;178615417 | chr2:179480146;179480145;179480144 |
| N2AB | 14535 | 43828;43829;43830 | chr2:178615419;178615418;178615417 | chr2:179480146;179480145;179480144 |
| N2A | 13608 | 41047;41048;41049 | chr2:178615419;178615418;178615417 | chr2:179480146;179480145;179480144 |
| N2B | 7111 | 21556;21557;21558 | chr2:178615419;178615418;178615417 | chr2:179480146;179480145;179480144 |
| Novex-1 | 7236 | 21931;21932;21933 | chr2:178615419;178615418;178615417 | chr2:179480146;179480145;179480144 |
| Novex-2 | 7303 | 22132;22133;22134 | chr2:178615419;178615418;178615417 | chr2:179480146;179480145;179480144 |
| 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/R | rs752645675  |
-2.164 | 1.0 | D | 0.909 | 0.912 | 0.904166217823 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| W/R | rs752645675 |
-2.164 | 1.0 | D | 0.909 | 0.912 | 0.904166217823 | gnomAD-4.0.0 | 3.18748E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43398E-05 | 3.03049E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9989 | likely_pathogenic | 0.9979 | pathogenic | -3.662 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| W/C | 0.9991 | likely_pathogenic | 0.9989 | pathogenic | -2.042 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.835820609 | None | None | N |
| W/D | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.904 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| W/E | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -3.793 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| W/F | 0.8582 | likely_pathogenic | 0.8552 | pathogenic | -2.303 | Highly Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| W/G | 0.9948 | likely_pathogenic | 0.99 | pathogenic | -3.892 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.835820609 | None | None | N |
| W/H | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -2.812 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| W/I | 0.9978 | likely_pathogenic | 0.9962 | pathogenic | -2.755 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -2.789 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| W/L | 0.9957 | likely_pathogenic | 0.992 | pathogenic | -2.755 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.806086559 | None | None | N |
| W/M | 0.9987 | likely_pathogenic | 0.9979 | pathogenic | -2.188 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| W/N | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.446 | Highly Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| W/P | 0.9999 | likely_pathogenic | 0.9997 | pathogenic | -3.091 | Highly Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| W/Q | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -3.331 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| W/R | 0.9998 | likely_pathogenic | 0.9996 | pathogenic | -2.386 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.835820609 | None | None | N |
| W/S | 0.9989 | likely_pathogenic | 0.998 | pathogenic | -3.598 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.804974194 | None | None | N |
| W/T | 0.9994 | likely_pathogenic | 0.9988 | pathogenic | -3.414 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| W/V | 0.9974 | likely_pathogenic | 0.9955 | pathogenic | -3.091 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| W/Y | 0.9807 | likely_pathogenic | 0.9795 | pathogenic | -2.173 | Highly Destabilizing | 1.0 | D | 0.84 | 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.