Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17736 | 53431;53432;53433 | chr2:178607482;178607481;178607480 | chr2:179472209;179472208;179472207 |
| N2AB | 16095 | 48508;48509;48510 | chr2:178607482;178607481;178607480 | chr2:179472209;179472208;179472207 |
| N2A | 15168 | 45727;45728;45729 | chr2:178607482;178607481;178607480 | chr2:179472209;179472208;179472207 |
| N2B | 8671 | 26236;26237;26238 | chr2:178607482;178607481;178607480 | chr2:179472209;179472208;179472207 |
| Novex-1 | 8796 | 26611;26612;26613 | chr2:178607482;178607481;178607480 | chr2:179472209;179472208;179472207 |
| Novex-2 | 8863 | 26812;26813;26814 | chr2:178607482;178607481;178607480 | chr2:179472209;179472208;179472207 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs571702144  |
-0.097 | 1.0 | N | 0.602 | 0.477 | 0.426084969639 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/G | rs571702144 |
-0.097 | 1.0 | N | 0.602 | 0.477 | 0.426084969639 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/G | rs571702144 |
-0.097 | 1.0 | N | 0.602 | 0.477 | 0.426084969639 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| R/G | rs571702144 |
-0.097 | 1.0 | N | 0.602 | 0.477 | 0.426084969639 | gnomAD-4.0.0 | 6.57834E-06 | None | None | None | None | I | None | 0 | 6.55136E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/Q | rs766817830 |
0.599 | 1.0 | N | 0.706 | 0.344 | 0.165133752707 | gnomAD-2.1.1 | 6.84E-05 | None | None | None | None | I | None | 0 | 1.15935E-04 | None | 9.95E-05 | 0 | None | 2.61455E-04 | None | 0 | 2.67E-05 | 1.65563E-04 |
| R/Q | rs766817830 |
0.599 | 1.0 | N | 0.706 | 0.344 | 0.165133752707 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 2.88184E-04 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/Q | rs766817830 |
0.599 | 1.0 | N | 0.706 | 0.344 | 0.165133752707 | gnomAD-4.0.0 | 2.66565E-05 | None | None | None | None | I | None | 0 | 8.33861E-05 | None | 1.35217E-04 | 0 | None | 0 | 3.29164E-04 | 1.27181E-05 | 1.64719E-04 | 3.20431E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9933 | likely_pathogenic | 0.9966 | pathogenic | -0.146 | Destabilizing | 0.999 | D | 0.613 | neutral | None | None | None | None | I |
| R/C | 0.9244 | likely_pathogenic | 0.9485 | pathogenic | -0.045 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| R/D | 0.9978 | likely_pathogenic | 0.9988 | pathogenic | 0.085 | Stabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | I |
| R/E | 0.9725 | likely_pathogenic | 0.9853 | pathogenic | 0.204 | Stabilizing | 0.999 | D | 0.655 | neutral | None | None | None | None | I |
| R/F | 0.9951 | likely_pathogenic | 0.9967 | pathogenic | 0.007 | Stabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | I |
| R/G | 0.9896 | likely_pathogenic | 0.9938 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.602 | neutral | N | 0.473836049 | None | None | I |
| R/H | 0.7735 | likely_pathogenic | 0.8152 | pathogenic | -1.004 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| R/I | 0.9755 | likely_pathogenic | 0.9917 | pathogenic | 0.64 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| R/K | 0.6939 | likely_pathogenic | 0.8175 | pathogenic | -0.171 | Destabilizing | 0.998 | D | 0.539 | neutral | None | None | None | None | I |
| R/L | 0.9519 | likely_pathogenic | 0.981 | pathogenic | 0.64 | Stabilizing | 1.0 | D | 0.602 | neutral | N | 0.51011753 | None | None | I |
| R/M | 0.9889 | likely_pathogenic | 0.9958 | pathogenic | 0.132 | Stabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| R/N | 0.9955 | likely_pathogenic | 0.9978 | pathogenic | 0.236 | Stabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | I |
| R/P | 0.9784 | likely_pathogenic | 0.9906 | pathogenic | 0.4 | Stabilizing | 1.0 | D | 0.691 | prob.neutral | N | 0.502460839 | None | None | I |
| R/Q | 0.7624 | likely_pathogenic | 0.8637 | pathogenic | 0.175 | Stabilizing | 1.0 | D | 0.706 | prob.neutral | N | 0.455465078 | None | None | I |
| R/S | 0.9966 | likely_pathogenic | 0.9981 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | I |
| R/T | 0.9936 | likely_pathogenic | 0.9975 | pathogenic | 0.047 | Stabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | I |
| R/V | 0.9843 | likely_pathogenic | 0.9938 | pathogenic | 0.4 | Stabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
| R/W | 0.8999 | likely_pathogenic | 0.9193 | pathogenic | 0.141 | Stabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| R/Y | 0.9824 | likely_pathogenic | 0.9871 | pathogenic | 0.475 | Stabilizing | 1.0 | D | 0.717 | prob.delet. | 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.